Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature
With recent rapid advances in genomic technologies, precise delineation of structural chromosome rearrangements at the nucleotide level is becoming increasingly feasible. In this era of “next-generation cytogenetics” (i.e., an integration of traditional cytogenetic techniques and next-generation seq...
Saved in:
| Published in | American journal of human genetics Vol. 94; no. 5; pp. 695 - 709 |
|---|---|
| Main Authors | , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
Elsevier Inc
01.05.2014
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
Cover
Loading…
| Abstract | With recent rapid advances in genomic technologies, precise delineation of structural chromosome rearrangements at the nucleotide level is becoming increasingly feasible. In this era of “next-generation cytogenetics” (i.e., an integration of traditional cytogenetic techniques and next-generation sequencing), a consensus nomenclature is essential for accurate communication and data sharing. Currently, nomenclature for describing the sequencing data of these aberrations is lacking. Herein, we present a system called Next-Gen Cytogenetic Nomenclature, which is concordant with the International System for Human Cytogenetic Nomenclature (2013). This system starts with the alignment of rearrangement sequences by BLAT or BLAST (alignment tools) and arrives at a concise and detailed description of chromosomal changes. To facilitate usage and implementation of this nomenclature, we are developing a program designated BLA(S)T Output Sequence Tool of Nomenclature (BOSToN), a demonstrative version of which is accessible online. A standardized characterization of structural chromosomal rearrangements is essential both for research analyses and for application in the clinical setting. |
|---|---|
| AbstractList | With recent rapid advances in genomic technologies, precise delineation of structural chromosome rearrangements at the nucleotide level is becoming increasingly feasible. In this era of "next-generation cytogenetics" (i.e., an integration of traditional cytogenetic techniques and next-generation sequencing), a consensus nomenclature is essential for accurate communication and data sharing. Currently, nomenclature for describing the sequencing data of these aberrations is lacking. Herein, we present a system called Next-Gen Cytogenetic Nomenclature, which is concordant with the International System for Human Cytogenetic Nomenclature (2013). This system starts with the alignment of rearrangement sequences by BLAT or BLAST (alignment tools) and arrives at a concise and detailed description of chromosomal changes. To facilitate usage and implementation of this nomenclature, we are developing a program designated BLA(S)T Output Sequence Tool of Nomenclature (BOSToN), a demonstrative version of which is accessible online. A standardized characterization of structural chromosomal rearrangements is essential both for research analyses and for application in the clinical setting. [PUBLICATION ABSTRACT] With recent rapid advances in genomic technologies, precise delineation of structural chromosome rearrangements at the nucleotide level is becoming increasingly feasible. In this era of "next-generation cytogenetics" (i.e., an integration of traditional cytogenetic techniques and next-generation sequencing), a consensus nomenclature is essential for accurate communication and data sharing. Currently, nomenclature for describing the sequencing data of these aberrations is lacking. Herein, we present a system called Next-Gen Cytogenetic Nomenclature, which is concordant with the International System for Human Cytogenetic Nomenclature (2013). This system starts with the alignment of rearrangement sequences by BLAT or BLAST (alignment tools) and arrives at a concise and detailed description of chromosomal changes. To facilitate usage and implementation of this nomenclature, we are developing a program designated BLA(S)T Output Sequence Tool of Nomenclature (BOSToN), a demonstrative version of which is accessible online. A standardized characterization of structural chromosomal rearrangements is essential both for research analyses and for application in the clinical setting. With recent rapid advances in genomic technologies, precise delineation of structural chromosome rearrangements at the nucleotide level is becoming increasingly feasible. In this era of “next-generation cytogenetics” (i.e., an integration of traditional cytogenetic techniques and next-generation sequencing), a consensus nomenclature is essential for accurate communication and data sharing. Currently, nomenclature for describing the sequencing data of these aberrations is lacking. Herein, we present a system called Next-Gen Cytogenetic Nomenclature, which is concordant with the International System for Human Cytogenetic Nomenclature (2013). This system starts with the alignment of rearrangement sequences by BLAT or BLAST (alignment tools) and arrives at a concise and detailed description of chromosomal changes. To facilitate usage and implementation of this nomenclature, we are developing a program designated B LA(S)T O utput S equence T ool o f N omenclature (BOSToN), a demonstrative version of which is accessible online. A standardized characterization of structural chromosomal rearrangements is essential both for research analyses and for application in the clinical setting. With recent rapid advances in genomic technologies, precise delineation of structural chromosome rearrangements at the nucleotide level is becoming increasingly feasible. In this era of "next-generation cytogenetics" (i.e., an integration of traditional cytogenetic techniques and next-generation sequencing), a consensus nomenclature is essential for accurate communication and data sharing. Currently, nomenclature for describing the sequencing data of these aberrations is lacking. Herein, we present a system called Next-Gen Cytogenetic Nomenclature, which is concordant with the International System for Human Cytogenetic Nomenclature (2013). This system starts with the alignment of rearrangement sequences by BLAT or BLAST (alignment tools) and arrives at a concise and detailed description of chromosomal changes. To facilitate usage and implementation of this nomenclature, we are developing a program designated BLA(S)T Output Sequence Tool of Nomenclature (BOSToN), a demonstrative version of which is accessible online. A standardized characterization of structural chromosomal rearrangements is essential both for research analyses and for application in the clinical setting.With recent rapid advances in genomic technologies, precise delineation of structural chromosome rearrangements at the nucleotide level is becoming increasingly feasible. In this era of "next-generation cytogenetics" (i.e., an integration of traditional cytogenetic techniques and next-generation sequencing), a consensus nomenclature is essential for accurate communication and data sharing. Currently, nomenclature for describing the sequencing data of these aberrations is lacking. Herein, we present a system called Next-Gen Cytogenetic Nomenclature, which is concordant with the International System for Human Cytogenetic Nomenclature (2013). This system starts with the alignment of rearrangement sequences by BLAT or BLAST (alignment tools) and arrives at a concise and detailed description of chromosomal changes. To facilitate usage and implementation of this nomenclature, we are developing a program designated BLA(S)T Output Sequence Tool of Nomenclature (BOSToN), a demonstrative version of which is accessible online. A standardized characterization of structural chromosomal rearrangements is essential both for research analyses and for application in the clinical setting. |
| Author | Ordulu, Zehra Wong, Kristen E. Talkowski, Michael E. Althari, Sara Ivanov, Andrew R. Pereira, Shahrin Gusella, James F. Currall, Benjamin B. Morton, Cynthia C. |
| AuthorAffiliation | 2 Department of Pathology, Brigham and Women’s Hospital, Boston, MA 02115, USA 4 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA 5 Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA 6 Harvard Medical School, Boston, MA 02115, USA 3 Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA 7 Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA 1 Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women’s Hospital, Boston, MA 02115, USA |
| AuthorAffiliation_xml | – name: 1 Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women’s Hospital, Boston, MA 02115, USA – name: 4 Department of Genetics, Harvard Medical School, Boston, MA 02115, USA – name: 6 Harvard Medical School, Boston, MA 02115, USA – name: 3 Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA – name: 7 Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA – name: 2 Department of Pathology, Brigham and Women’s Hospital, Boston, MA 02115, USA – name: 5 Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA |
| Author_xml | – sequence: 1 givenname: Zehra surname: Ordulu fullname: Ordulu, Zehra organization: Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women’s Hospital, Boston, MA 02115, USA – sequence: 2 givenname: Kristen E. surname: Wong fullname: Wong, Kristen E. organization: Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women’s Hospital, Boston, MA 02115, USA – sequence: 3 givenname: Benjamin B. surname: Currall fullname: Currall, Benjamin B. organization: Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women’s Hospital, Boston, MA 02115, USA – sequence: 4 givenname: Andrew R. surname: Ivanov fullname: Ivanov, Andrew R. organization: Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women’s Hospital, Boston, MA 02115, USA – sequence: 5 givenname: Shahrin surname: Pereira fullname: Pereira, Shahrin organization: Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women’s Hospital, Boston, MA 02115, USA – sequence: 6 givenname: Sara surname: Althari fullname: Althari, Sara organization: Department of Pathology, Brigham and Women’s Hospital, Boston, MA 02115, USA – sequence: 7 givenname: James F. surname: Gusella fullname: Gusella, James F. organization: Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA – sequence: 8 givenname: Michael E. surname: Talkowski fullname: Talkowski, Michael E. organization: Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA – sequence: 9 givenname: Cynthia C. surname: Morton fullname: Morton, Cynthia C. email: cmorton@partners.org organization: Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women’s Hospital, Boston, MA 02115, USA |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/24746958$$D View this record in MEDLINE/PubMed |
| BookMark | eNqNkk9v1DAQxS1URLeFL8ABReLCJYv_JY4lhIQWKEhVkVg4W44zyXqV2MV2Cj3x1XHYFkEPFSfb8u89zbyZE3TkvAOEnhK8JpjUL_drvd8Na4oJX2O2xhQ_QCtSMVHWNa6O0ApjTEtJpThGJzHuMSakwewROqZc8FpWzQr9fAvRBNtaNxRb-DaDM8v1M8R5TLHwfbFNYTZpDnosNrvgJx_9BBnQIWg3wAQuc99t2hW62M7DADFBV1zAj1SegYOgk_Wu2FwnP-Rnsqa4yAbOjDqbwmP0sNdjhCc35yn6-v7dl82H8vzT2cfNm_PSVKROJQgpmOnaDouek472krSVaDqQtDasobUUjRAYagwaRNMbzqHqWy6xlJ1hlJ2i1wffy7mdoDO56tyRugx20uFaeW3Vvz_O7tTgrxTHtagqkQ1e3BgEn2OKSU02GhhH7cDPUeXceYMlJfw_UEoYIwwvrs_voHs_B5eTWChOK1ozlqlnfxf_p-rbMWagOQAm-BgD9MrY9Dv43IsdFcFq2Ri1V8vGqGVjFGYqb0yW0jvSW_d7Ra8OIsgju7IQVDQ2zxQ6G8Ak1Xl7n_wXJmXcRg |
| CitedBy_id | crossref_primary_10_1016_j_ajhg_2016_08_022 crossref_primary_10_1007_s00439_024_02693_y crossref_primary_10_1093_hmg_ddw006 crossref_primary_10_1016_j_ajhg_2017_06_011 crossref_primary_10_1007_s00439_020_02121_x crossref_primary_10_1186_s13039_014_0100_9 crossref_primary_10_1016_j_exer_2017_12_012 crossref_primary_10_1038_ejhg_2016_64 crossref_primary_10_1002_ajmg_a_38021 crossref_primary_10_1038_s10038_019_0596_2 crossref_primary_10_1016_j_ajhg_2019_02_024 crossref_primary_10_1186_s13039_020_00490_6 crossref_primary_10_1007_s00204_018_2294_9 crossref_primary_10_1146_annurev_genom_090413_025346 crossref_primary_10_1007_s12020_019_02010_y crossref_primary_10_1016_j_oraloncology_2024_107108 crossref_primary_10_1038_s41431_017_0068_0 crossref_primary_10_1002_cphg_107 crossref_primary_10_1002_gcc_22833 crossref_primary_10_1002_gcc_22317 crossref_primary_10_1016_j_ajhg_2019_11_013 crossref_primary_10_1002_humu_23146 crossref_primary_10_1016_j_ejmg_2018_03_013 crossref_primary_10_1093_hmg_ddy310 crossref_primary_10_1186_s13073_018_0606_6 crossref_primary_10_1371_journal_pone_0154574 crossref_primary_10_1007_s40142_016_0091_4 crossref_primary_10_1038_jhg_2014_83 crossref_primary_10_1093_gbe_evu234 crossref_primary_10_1136_jmedgenet_2018_105527 crossref_primary_10_1186_s13039_015_0203_y crossref_primary_10_1186_s12958_020_00572_5 |
| Cites_doi | 10.1002/j.1460-2075.1983.tb01749.x 10.1038/nature08645 10.1101/gr.076166.108 10.1097/GIM.0b013e31822272ac 10.1101/gr.229102 10.1093/nar/gkt1122 10.1016/j.cell.2012.03.028 10.1016/0092-8674(84)90381-7 10.1016/j.molonc.2013.04.008 10.1111/j.1601-5223.1956.tb03010.x 10.1016/j.ajhg.2009.03.010 10.1016/j.ajhg.2011.03.013 10.1002/ajmg.a.36279 10.1159/000131621 10.1136/jmedgenet-2012-101351 10.1016/j.cell.2010.11.055 10.1016/0014-4827(68)90538-7 10.1093/nar/gkt958 10.1016/j.cell.2011.02.013 10.1126/science.1149504 10.1038/gim.2013.49 10.1038/nature07517 10.1038/ng.2202 10.1038/gim.2013.92 10.1111/j.1469-1809.1960.tb01744.x 10.1111/j.1601-5223.1971.tb02368.x 10.1016/S0022-2836(05)80360-2 10.1038/nature09460 10.1101/gr.229202 10.1016/j.ajhg.2012.10.016 10.1038/gim.2013.129 10.1056/NEJMoa1208594 10.1007/s00439-013-1263-x 10.1016/j.canlet.2012.11.025 |
| ContentType | Journal Article |
| Copyright | 2014 The American Society of Human Genetics Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press May 1, 2014 2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics |
| Copyright_xml | – notice: 2014 The American Society of Human Genetics – notice: Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. – notice: Copyright Cell Press May 1, 2014 – notice: 2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics |
| DBID | 6I. AAFTH AAYXX CITATION CGR CUY CVF ECM EIF NPM 7QP 7TK 7TM 7U7 8FD C1K FR3 K9. NAPCQ P64 RC3 7X8 5PM |
| DOI | 10.1016/j.ajhg.2014.03.020 |
| DatabaseName | ScienceDirect Open Access Titles Elsevier:ScienceDirect:Open Access CrossRef Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed Calcium & Calcified Tissue Abstracts Neurosciences Abstracts Nucleic Acids Abstracts Toxicology Abstracts Technology Research Database Environmental Sciences and Pollution Management Engineering Research Database ProQuest Health & Medical Complete (Alumni) Nursing & Allied Health Premium Biotechnology and BioEngineering Abstracts Genetics Abstracts MEDLINE - Academic PubMed Central (Full Participant titles) |
| DatabaseTitle | CrossRef MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) Nursing & Allied Health Premium Genetics Abstracts Technology Research Database Toxicology Abstracts Nucleic Acids Abstracts ProQuest Health & Medical Complete (Alumni) Engineering Research Database Calcium & Calcified Tissue Abstracts Neurosciences Abstracts Biotechnology and BioEngineering Abstracts Environmental Sciences and Pollution Management MEDLINE - Academic |
| DatabaseTitleList | Nursing & Allied Health Premium MEDLINE MEDLINE - Academic Genetics Abstracts |
| Database_xml | – sequence: 1 dbid: NPM name: PubMed url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed sourceTypes: Index Database – sequence: 2 dbid: EIF name: MEDLINE url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search sourceTypes: Index Database |
| DeliveryMethod | fulltext_linktorsrc |
| Discipline | Biology |
| EISSN | 1537-6605 |
| EndPage | 709 |
| ExternalDocumentID | PMC4067557 3302768241 24746958 10_1016_j_ajhg_2014_03_020 S0002929714001724 |
| Genre | Research Support, Non-U.S. Gov't Journal Article Research Support, N.I.H., Extramural |
| GrantInformation_xml | – fundername: NIGMS NIH HHS grantid: P01 GM061354 – fundername: NIDCD NIH HHS grantid: F32 DC012466 – fundername: NIGMS NIH HHS grantid: GM061354 – fundername: NIMH NIH HHS grantid: MH087123 – fundername: NIMH NIH HHS grantid: K99 MH095867 – fundername: NICHD NIH HHS grantid: R01 HD060530 – fundername: NICHD NIH HHS grantid: R21 HD065286 – fundername: NIGMS NIH HHS grantid: T32 GM007748 – fundername: NICHD NIH HHS grantid: HD065286 – fundername: NICHD NIH HHS grantid: HD060530 |
| GroupedDBID | --- --K --Z -~X 0R~ 123 1~5 23M 2WC 34R 4.4 457 4G. 53G 5GY 62- 6I. 6J9 7-5 85S AACTN AAEDT AAEDW AAFTH AAIAV AAIKJ AAKRW AALRI AAUCE AAVLU AAWTL AAXJY AAXUO ABJNI ABMAC ABMWF ABOCM ABVKL ACGFO ACGFS ACGOD ACNCT ACPRK ADBBV ADEZE ADJPV AENEX AEXQZ AFRAH AFTJW AGHFR AGKMS AHMBA AITUG ALKID ALMA_UNASSIGNED_HOLDINGS AMRAJ AOIJS ASPBG AVWKF AZFZN BAWUL CS3 D0L DIK E3Z EBS ECV EJD F5P FCP FDB FEDTE GX1 HVGLF HYE IH2 IHE IXB JIG KQ8 L7B M41 NCXOZ O-L O9- OK1 P2P PQQKQ RCE RIG RNS ROL RPM RPZ SES SJN SSZ TN5 TR2 TWZ UHB UKR UNMZH UPT VQA WH7 WQ6 ZA5 ZCA .55 .GJ 3O- 41~ AAFWJ AAMRU AAQXK AAYWO AAYXX ABDGV ABWVN ACKIV ACRPL ACVFH ADCNI ADMUD ADNMO ADVLN ADXHL AEUPX AFPUW AGCDD AGCQF AGQPQ AI. AIGII AKAPO AKBMS AKRWK AKYEP APXCP C1A CITATION FA8 FGOYB HZ~ MVM NEJ OHT OZT R2- VH1 WOQ X7M XOL ZCG ZGI ZXP CGR CUY CVF ECM EIF NPM 7QP 7TK 7TM 7U7 8FD C1K EFKBS FR3 K9. NAPCQ P64 RC3 7X8 5PM |
| ID | FETCH-LOGICAL-c516t-e7973cdbd07f41d2f91b578de926c3826978770e60eae78fc44e5fb49099dc323 |
| IEDL.DBID | IXB |
| ISSN | 0002-9297 1537-6605 |
| IngestDate | Thu Aug 21 13:56:34 EDT 2025 Fri Jul 11 11:36:32 EDT 2025 Thu Jul 10 18:37:20 EDT 2025 Fri Jul 25 19:51:13 EDT 2025 Thu Apr 03 07:08:43 EDT 2025 Tue Jul 01 03:39:12 EDT 2025 Thu Apr 24 23:00:20 EDT 2025 Fri Feb 23 02:29:25 EST 2024 |
| IsDoiOpenAccess | true |
| IsOpenAccess | true |
| IsPeerReviewed | true |
| IsScholarly | true |
| Issue | 5 |
| Language | English |
| License | http://www.elsevier.com/open-access/userlicense/1.0 Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. |
| LinkModel | DirectLink |
| MergedId | FETCHMERGED-LOGICAL-c516t-e7973cdbd07f41d2f91b578de926c3826978770e60eae78fc44e5fb49099dc323 |
| Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 ObjectType-Article-2 ObjectType-Feature-1 |
| OpenAccessLink | https://www.sciencedirect.com/science/article/pii/S0002929714001724 |
| PMID | 24746958 |
| PQID | 1524252633 |
| PQPubID | 24320 |
| PageCount | 15 |
| ParticipantIDs | pubmedcentral_primary_oai_pubmedcentral_nih_gov_4067557 proquest_miscellaneous_1534809214 proquest_miscellaneous_1521331307 proquest_journals_1524252633 pubmed_primary_24746958 crossref_citationtrail_10_1016_j_ajhg_2014_03_020 crossref_primary_10_1016_j_ajhg_2014_03_020 elsevier_sciencedirect_doi_10_1016_j_ajhg_2014_03_020 |
| ProviderPackageCode | CITATION AAYXX |
| PublicationCentury | 2000 |
| PublicationDate | 2014-05-01 2014-05-00 2014-May-01 20140501 |
| PublicationDateYYYYMMDD | 2014-05-01 |
| PublicationDate_xml | – month: 05 year: 2014 text: 2014-05-01 day: 01 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States – name: Chicago |
| PublicationTitle | American journal of human genetics |
| PublicationTitleAlternate | Am J Hum Genet |
| PublicationYear | 2014 |
| Publisher | Elsevier Inc Cell Press Elsevier |
| Publisher_xml | – name: Elsevier Inc – name: Cell Press – name: Elsevier |
| References | Martínez-Fundichely, Casillas, Egea, Ràmia, Barbadilla, Pantano, Puig, Cáceres (bib43) 2014; 42 (bib6) 1978; 21 (bib7) 1981; 31 Firth, Richards, Bevan, Clayton, Corpas, Rajan, Van Vooren, Moreau, Pettett, Carter (bib42) 2009; 84 (bib13) 2013 Chiang, Jacobsen, Ernst, Hanscom, Heilbut, Blumenthal, Mills, Kirby, Lindgren, Rudiger (bib23) 2012; 44 Kamalakaran, Varadan, Janevski, Banerjee, Tuck, McCombie, Dimitrova, Harris (bib31) 2013; 7 Vergult, Van Binsbergen, Sante, Nowak, Vanakker, Claes, Poppe, Van der Aa, van Roosmalen, Duran (bib25) 2013 Caspersson, Hultén, Lindsten, Zech (bib4) 1972; 67 Rehm, Bale, Bayrak-Toydemir, Berg, Brown, Deignan, Friez, Funke, Hegde, Lyon (bib36) 2013; 15 Schluth-Bolard, Labalme, Cordier, Till, Nadeau, Tevissen, Lesca, Boutry-Kryza, Rossignol, Rocas (bib28) 2013; 50 Palmer, Speirs, Taylor, Mullan, Turner, Einfeld, Tonge, Mowat (bib44) 2014; 164A Taub, Kelly, Battey, Latt, Lenoir, Tantravahi, Tu, Leder (bib14) 1984; 37 (bib12) 2009 South, Lee, Lamb, Higgins, Kearney (bib40) 2013; 15 (bib11) 2005 Kent, Sugnet, Furey, Roskin, Pringle, Zahler, Haussler (bib35) 2002; 12 (bib2) 1960; 24 Talkowski, Ordulu, Pillalamarri, Benson, Blumenthal, Connolly, Hanscom, Hussain, Pereira, Picker (bib20) 2012; 367 Talkowski, Maussion, Crapper, Rosenfeld, Blumenthal, Hanscom, Chiang, Lindgren, Pereira, Ruderfer (bib24) 2012; 91 Lindgren, Hoyos, Talkowski, Hanscom, Blumenthal, Chiang, Ernst, Pereira, Ordulu, Clericuzio (bib22) 2013; 132 Caspersson, Farber, Foley, Kudynowski, Modest, Simonsson, Wagh, Zech (bib3) 1968; 49 Cooley, Lebo, Li, Slovak, Wolff (bib39) 2013; 15 Hanahan, Weinberg (bib30) 2011; 144 Chen, Kalscheuer, Tzschach, Menzel, Ullmann, Schulz, Erdogan, Li, Kijas, Arkesteijn (bib18) 2008; 18 Stephens, McBride, Lin, Varela, Pleasance, Simpson, Stebbings, Leroy, Edkins, Mudie (bib26) 2009; 462 Altschul, Gish, Miller, Myers, Lipman (bib33) 1990; 215 Campbell, Yachida, Mudie, Stephens, Pleasance, Stebbings, Morsberger, Latimer, McLaren, Lin (bib27) 2010; 467 Kent (bib34) 2002; 12 Meyer, Zweig, Hinrichs, Karolchik, Kuhn, Wong, Sloan, Rosenbloom, Roe, Rhead (bib32) 2013; 41 (bib5) 1972; 11 Bernard, Cory, Gerondakis, Webb, Adams (bib15) 1983; 2 Talkowski, Ernst, Heilbut, Chiang, Hanscom, Lindgren, Kirby, Liu, Muddukrishna, Ohsumi (bib19) 2011; 88 (bib9) 1992 Bentley, Balasubramanian, Swerdlow, Smith, Milton, Brown, Hall, Evers, Barnes, Bignell (bib16) 2008; 456 Xuan, Yu, Qing, Guo, Shi (bib37) 2013; 340 Tjio, Levan (bib1) 1956; 42 (bib10) 1995 Stephens, Greenman, Fu, Yang, Bignell, Mudie, Pleasance, Lau, Beare, Stebbings (bib29) 2011; 144 (bib8) 1985; 21 Korbel, Urban, Affourtit, Godwin, Grubert, Simons, Kim, Palejev, Carriero, Du (bib17) 2007; 318 Talkowski, Rosenfeld, Blumenthal, Pillalamarri, Chiang, Heilbut, Ernst, Hanscom, Rossin, Lindgren (bib21) 2012; 149 Kearney, South, Wolff, Lamb, Hamosh, Rao (bib38) 2011; 13 MacDonald, Ziman, Yuen, Feuk, Scherer (bib41) 2014; 42 Kearney (10.1016/j.ajhg.2014.03.020_bib38) 2011; 13 (10.1016/j.ajhg.2014.03.020_bib9) 1992 Kamalakaran (10.1016/j.ajhg.2014.03.020_bib31) 2013; 7 Palmer (10.1016/j.ajhg.2014.03.020_bib44) 2014; 164A Stephens (10.1016/j.ajhg.2014.03.020_bib29) 2011; 144 Talkowski (10.1016/j.ajhg.2014.03.020_bib24) 2012; 91 Rehm (10.1016/j.ajhg.2014.03.020_bib36) 2013; 15 (10.1016/j.ajhg.2014.03.020_bib10) 1995 Talkowski (10.1016/j.ajhg.2014.03.020_bib19) 2011; 88 Kent (10.1016/j.ajhg.2014.03.020_bib35) 2002; 12 Bentley (10.1016/j.ajhg.2014.03.020_bib16) 2008; 456 Chen (10.1016/j.ajhg.2014.03.020_bib18) 2008; 18 Meyer (10.1016/j.ajhg.2014.03.020_bib32) 2013; 41 Kent (10.1016/j.ajhg.2014.03.020_bib34) 2002; 12 Xuan (10.1016/j.ajhg.2014.03.020_bib37) 2013; 340 Vergult (10.1016/j.ajhg.2014.03.020_bib25) 2013 Tjio (10.1016/j.ajhg.2014.03.020_bib1) 1956; 42 (10.1016/j.ajhg.2014.03.020_bib12) 2009 (10.1016/j.ajhg.2014.03.020_bib13) 2013 (10.1016/j.ajhg.2014.03.020_bib2) 1960; 24 (10.1016/j.ajhg.2014.03.020_bib5) 1972; 11 (10.1016/j.ajhg.2014.03.020_bib11) 2005 Schluth-Bolard (10.1016/j.ajhg.2014.03.020_bib28) 2013; 50 Bernard (10.1016/j.ajhg.2014.03.020_bib15) 1983; 2 Caspersson (10.1016/j.ajhg.2014.03.020_bib4) 1972; 67 MacDonald (10.1016/j.ajhg.2014.03.020_bib41) 2014; 42 Stephens (10.1016/j.ajhg.2014.03.020_bib26) 2009; 462 Taub (10.1016/j.ajhg.2014.03.020_bib14) 1984; 37 Korbel (10.1016/j.ajhg.2014.03.020_bib17) 2007; 318 Campbell (10.1016/j.ajhg.2014.03.020_bib27) 2010; 467 Firth (10.1016/j.ajhg.2014.03.020_bib42) 2009; 84 Talkowski (10.1016/j.ajhg.2014.03.020_bib21) 2012; 149 Lindgren (10.1016/j.ajhg.2014.03.020_bib22) 2013; 132 (10.1016/j.ajhg.2014.03.020_bib7) 1981; 31 (10.1016/j.ajhg.2014.03.020_bib6) 1978; 21 Hanahan (10.1016/j.ajhg.2014.03.020_bib30) 2011; 144 South (10.1016/j.ajhg.2014.03.020_bib40) 2013; 15 Chiang (10.1016/j.ajhg.2014.03.020_bib23) 2012; 44 (10.1016/j.ajhg.2014.03.020_bib8) 1985; 21 Caspersson (10.1016/j.ajhg.2014.03.020_bib3) 1968; 49 Talkowski (10.1016/j.ajhg.2014.03.020_bib20) 2012; 367 Altschul (10.1016/j.ajhg.2014.03.020_bib33) 1990; 215 Martínez-Fundichely (10.1016/j.ajhg.2014.03.020_bib43) 2014; 42 Cooley (10.1016/j.ajhg.2014.03.020_bib39) 2013; 15 5640698 - Exp Cell Res. 1968 Jan;49(1):219-22 7297128 - Cytogenet Cell Genet. 1981;31(1):5-23 2231712 - J Mol Biol. 1990 Oct 5;215(3):403-10 24174537 - Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92 4142004 - Hereditas. 1972;67(1):147-9 23354975 - Hum Genet. 2013 May;132(5):537-52 20033038 - Nature. 2009 Dec 24;462(7276):1005-10 21473983 - Am J Hum Genet. 2011 Apr 8;88(4):469-81 21215367 - Cell. 2011 Jan 7;144(1):27-40 22521361 - Cell. 2012 Apr 27;149(3):525-37 17901297 - Science. 2007 Oct 19;318(5849):420-6 4647417 - Cytogenetics. 1972;11(5):317-62 24105367 - Eur J Hum Genet. 2014 May;22(5):652-9 23215558 - N Engl J Med. 2012 Dec 6;367(23):2226-32 18987734 - Nature. 2008 Nov 6;456(7218):53-9 21376230 - Cell. 2011 Mar 4;144(5):646-74 6327071 - Cell. 1984 Jun;37(2):511-20 24311194 - Am J Med Genet A. 2014 Feb;164A(2):377-85 12045153 - Genome Res. 2002 Jun;12(6):996-1006 23174106 - Cancer Lett. 2013 Nov 1;340(2):284-95 4041569 - Birth Defects Orig Artic Ser. 1985;21(1):1-117 23155063 - Nucleic Acids Res. 2013 Jan;41(Database issue):D64-9 22388000 - Nat Genet. 2012 Apr;44(4):390-7, S1 20981101 - Nature. 2010 Oct 28;467(7319):1109-13 24071793 - Genet Med. 2013 Nov;15(11):901-9 24253300 - Nucleic Acids Res. 2014 Jan;42(Database issue):D1027-32 747930 - Cytogenet Cell Genet. 1978;21(6):309-409 21681105 - Genet Med. 2011 Jul;13(7):676-9 6321164 - EMBO J. 1983;2(12):2375-83 23217328 - Am J Hum Genet. 2012 Dec 7;91(6):1128-34 14447289 - Ann Hum Genet. 1960 Dec;24:319-25 23769412 - Mol Oncol. 2013 Aug;7(4):743-55 23887774 - Genet Med. 2013 Sep;15(9):733-47 23619274 - Genet Med. 2013 Jun;15(6):484-94 18326688 - Genome Res. 2008 Jul;18(7):1143-9 19344873 - Am J Hum Genet. 2009 Apr;84(4):524-33 23315544 - J Med Genet. 2013 Mar;50(3):144-50 11932250 - Genome Res. 2002 Apr;12(4):656-64 |
| References_xml | – volume: 7 start-page: 743 year: 2013 end-page: 755 ident: bib31 article-title: Translating next generation sequencing to practice: opportunities and necessary steps publication-title: Mol. Oncol. – volume: 164A start-page: 377 year: 2014 end-page: 385 ident: bib44 article-title: Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability publication-title: Am. J. Med. Genet. A. – year: 2013 ident: bib25 article-title: Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations publication-title: Eur. J. Hum. Genet. – volume: 41 start-page: D64 year: 2013 end-page: D69 ident: bib32 article-title: The UCSC Genome Browser database: extensions and updates 2013 publication-title: Nucleic Acids Res. – volume: 13 start-page: 676 year: 2011 end-page: 679 ident: bib38 article-title: American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities publication-title: Genet. Med. – volume: 15 start-page: 733 year: 2013 end-page: 747 ident: bib36 article-title: ACMG clinical laboratory standards for next-generation sequencing publication-title: Genet. Med. – volume: 21 start-page: 309 year: 1978 end-page: 409 ident: bib6 article-title: An international system for human cytogenetic nomenclature (1978) ISCN (1978). Report of the Standing Commitee on Human Cytogenetic Nomenclature publication-title: Cytogenet. Cell Genet. – year: 1992 ident: bib9 publication-title: ISCN 1991: Guidelines for Cancer Cytogenetics: Supplement to an International System for Human Cytogenetic Nomenclature: Recommendations of the Standing Committee on Human Cytogenetic Nomenclature – volume: 67 start-page: 147 year: 1972 end-page: 149 ident: bib4 article-title: Identification of chromosome bivalents in human male meiosis by quinacrine mustard fluorescence analysis publication-title: Hereditas – volume: 91 start-page: 1128 year: 2012 end-page: 1134 ident: bib24 article-title: Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities publication-title: Am. J. Hum. Genet. – volume: 42 start-page: 1 year: 1956 end-page: 6 ident: bib1 article-title: The chromosome number of man publication-title: Hereditas – volume: 456 start-page: 53 year: 2008 end-page: 59 ident: bib16 article-title: Accurate whole human genome sequencing using reversible terminator chemistry publication-title: Nature – volume: 15 start-page: 484 year: 2013 end-page: 494 ident: bib39 article-title: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders publication-title: Genet. Med. – volume: 340 start-page: 284 year: 2013 end-page: 295 ident: bib37 article-title: Next-generation sequencing in the clinic: promises and challenges publication-title: Cancer Lett. – volume: 12 start-page: 656 year: 2002 end-page: 664 ident: bib34 article-title: BLAT—the BLAST-like alignment tool publication-title: Genome Res. – volume: 2 start-page: 2375 year: 1983 end-page: 2383 ident: bib15 article-title: Sequence of the murine and human cellular myc oncogenes and two modes of myc transcription resulting from chromosome translocation in B lymphoid tumours publication-title: EMBO J. – year: 1995 ident: bib10 publication-title: ISCN 1995: An International System for Human Cytogenetic Nomenclature (1995): Recommendations of the international standing committee on human cytogenetic nomenclature – volume: 84 start-page: 524 year: 2009 end-page: 533 ident: bib42 article-title: Decipher: Database of chromosomal imbalance and phenotype in humans using ensembl resources publication-title: Am. J. Hum. Genet. – volume: 18 start-page: 1143 year: 2008 end-page: 1149 ident: bib18 article-title: Mapping translocation breakpoints by next-generation sequencing publication-title: Genome Res. – year: 2009 ident: bib12 publication-title: ISCN 2009: An International System for Human Cytogenetic Nomenclature (2009) – volume: 24 start-page: 319 year: 1960 end-page: 325 ident: bib2 article-title: A proposed standard system of nomenclature of human mitotic chromosomes (Denver, Colorado) publication-title: Ann. Hum. Genet. – volume: 21 start-page: 1 year: 1985 end-page: 117 ident: bib8 article-title: An International System for Human Cytogenetic Nomenclature (1985) ISCN 1985 publication-title: Birth Defects Orig. Artic. Ser. – volume: 144 start-page: 27 year: 2011 end-page: 40 ident: bib29 article-title: Massive genomic rearrangement acquired in a single catastrophic event during cancer development publication-title: Cell – year: 2013 ident: bib13 publication-title: ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013) – volume: 42 start-page: D1027 year: 2014 end-page: D1032 ident: bib43 article-title: InvFEST, a database integrating information of polymorphic inversions in the human genome publication-title: Nucleic Acids Res. – volume: 44 start-page: 390 year: 2012 end-page: 397 ident: bib23 article-title: Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration publication-title: Nat. Genet. – volume: 12 start-page: 996 year: 2002 end-page: 1006 ident: bib35 article-title: The human genome browser at UCSC publication-title: Genome Res. – volume: 31 start-page: 5 year: 1981 end-page: 23 ident: bib7 article-title: An international system for human cytogenetic nomenclature—high-resolution banding (1981). ISCN (1981) publication-title: Cytogenet. Cell Genet. – volume: 37 start-page: 511 year: 1984 end-page: 520 ident: bib14 article-title: A novel alteration in the structure of an activated c-myc gene in a variant t(2;8) Burkitt lymphoma publication-title: Cell – volume: 462 start-page: 1005 year: 2009 end-page: 1010 ident: bib26 article-title: Complex landscapes of somatic rearrangement in human breast cancer genomes publication-title: Nature – year: 2005 ident: bib11 publication-title: ISCN 2005: An International System for Human Cytogenetic Nomenclature (2005): Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature – volume: 88 start-page: 469 year: 2011 end-page: 481 ident: bib19 article-title: Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research publication-title: Am. J. Hum. Genet. – volume: 11 start-page: 317 year: 1972 end-page: 362 ident: bib5 article-title: Paris Conference (1971): Standardization in human cytogenetics publication-title: Cytogenetics – volume: 318 start-page: 420 year: 2007 end-page: 426 ident: bib17 article-title: Paired-end mapping reveals extensive structural variation in the human genome publication-title: Science – volume: 132 start-page: 537 year: 2013 end-page: 552 ident: bib22 article-title: Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate publication-title: Hum. Genet. – volume: 50 start-page: 144 year: 2013 end-page: 150 ident: bib28 article-title: Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations publication-title: J. Med. Genet. – volume: 144 start-page: 646 year: 2011 end-page: 674 ident: bib30 article-title: Hallmarks of cancer: the next generation publication-title: Cell – volume: 215 start-page: 403 year: 1990 end-page: 410 ident: bib33 article-title: Basic local alignment search tool publication-title: J. Mol. Biol. – volume: 149 start-page: 525 year: 2012 end-page: 537 ident: bib21 article-title: Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries publication-title: Cell – volume: 49 start-page: 219 year: 1968 end-page: 222 ident: bib3 article-title: Chemical differentiation along metaphase chromosomes publication-title: Exp. Cell Res. – volume: 467 start-page: 1109 year: 2010 end-page: 1113 ident: bib27 article-title: The patterns and dynamics of genomic instability in metastatic pancreatic cancer publication-title: Nature – volume: 367 start-page: 2226 year: 2012 end-page: 2232 ident: bib20 article-title: Clinical diagnosis by whole-genome sequencing of a prenatal sample publication-title: N. Engl. J. Med. – volume: 15 start-page: 901 year: 2013 end-page: 909 ident: bib40 article-title: ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 publication-title: Genet. Med. – volume: 42 start-page: D986 year: 2014 end-page: D992 ident: bib41 article-title: The Database of Genomic Variants: a curated collection of structural variation in the human genome publication-title: Nucleic Acids Res. – volume: 21 start-page: 1 year: 1985 ident: 10.1016/j.ajhg.2014.03.020_bib8 article-title: An International System for Human Cytogenetic Nomenclature (1985) ISCN 1985 publication-title: Birth Defects Orig. Artic. Ser. – volume: 2 start-page: 2375 year: 1983 ident: 10.1016/j.ajhg.2014.03.020_bib15 article-title: Sequence of the murine and human cellular myc oncogenes and two modes of myc transcription resulting from chromosome translocation in B lymphoid tumours publication-title: EMBO J. doi: 10.1002/j.1460-2075.1983.tb01749.x – volume: 462 start-page: 1005 year: 2009 ident: 10.1016/j.ajhg.2014.03.020_bib26 article-title: Complex landscapes of somatic rearrangement in human breast cancer genomes publication-title: Nature doi: 10.1038/nature08645 – volume: 18 start-page: 1143 year: 2008 ident: 10.1016/j.ajhg.2014.03.020_bib18 article-title: Mapping translocation breakpoints by next-generation sequencing publication-title: Genome Res. doi: 10.1101/gr.076166.108 – volume: 13 start-page: 676 year: 2011 ident: 10.1016/j.ajhg.2014.03.020_bib38 article-title: American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities publication-title: Genet. Med. doi: 10.1097/GIM.0b013e31822272ac – volume: 12 start-page: 996 year: 2002 ident: 10.1016/j.ajhg.2014.03.020_bib35 article-title: The human genome browser at UCSC publication-title: Genome Res. doi: 10.1101/gr.229102 – volume: 42 start-page: D1027 issue: Database issue year: 2014 ident: 10.1016/j.ajhg.2014.03.020_bib43 article-title: InvFEST, a database integrating information of polymorphic inversions in the human genome publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkt1122 – volume: 149 start-page: 525 year: 2012 ident: 10.1016/j.ajhg.2014.03.020_bib21 article-title: Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries publication-title: Cell doi: 10.1016/j.cell.2012.03.028 – volume: 37 start-page: 511 year: 1984 ident: 10.1016/j.ajhg.2014.03.020_bib14 article-title: A novel alteration in the structure of an activated c-myc gene in a variant t(2;8) Burkitt lymphoma publication-title: Cell doi: 10.1016/0092-8674(84)90381-7 – year: 1995 ident: 10.1016/j.ajhg.2014.03.020_bib10 – volume: 7 start-page: 743 year: 2013 ident: 10.1016/j.ajhg.2014.03.020_bib31 article-title: Translating next generation sequencing to practice: opportunities and necessary steps publication-title: Mol. Oncol. doi: 10.1016/j.molonc.2013.04.008 – volume: 42 start-page: 1 year: 1956 ident: 10.1016/j.ajhg.2014.03.020_bib1 article-title: The chromosome number of man publication-title: Hereditas doi: 10.1111/j.1601-5223.1956.tb03010.x – year: 2013 ident: 10.1016/j.ajhg.2014.03.020_bib13 – volume: 84 start-page: 524 year: 2009 ident: 10.1016/j.ajhg.2014.03.020_bib42 article-title: Decipher: Database of chromosomal imbalance and phenotype in humans using ensembl resources publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2009.03.010 – year: 2009 ident: 10.1016/j.ajhg.2014.03.020_bib12 – volume: 88 start-page: 469 year: 2011 ident: 10.1016/j.ajhg.2014.03.020_bib19 article-title: Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2011.03.013 – volume: 164A start-page: 377 year: 2014 ident: 10.1016/j.ajhg.2014.03.020_bib44 article-title: Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability publication-title: Am. J. Med. Genet. A. doi: 10.1002/ajmg.a.36279 – volume: 21 start-page: 309 year: 1978 ident: 10.1016/j.ajhg.2014.03.020_bib6 article-title: An international system for human cytogenetic nomenclature (1978) ISCN (1978). Report of the Standing Commitee on Human Cytogenetic Nomenclature publication-title: Cytogenet. Cell Genet. – volume: 31 start-page: 5 year: 1981 ident: 10.1016/j.ajhg.2014.03.020_bib7 article-title: An international system for human cytogenetic nomenclature—high-resolution banding (1981). ISCN (1981) publication-title: Cytogenet. Cell Genet. doi: 10.1159/000131621 – volume: 50 start-page: 144 year: 2013 ident: 10.1016/j.ajhg.2014.03.020_bib28 article-title: Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations publication-title: J. Med. Genet. doi: 10.1136/jmedgenet-2012-101351 – volume: 144 start-page: 27 year: 2011 ident: 10.1016/j.ajhg.2014.03.020_bib29 article-title: Massive genomic rearrangement acquired in a single catastrophic event during cancer development publication-title: Cell doi: 10.1016/j.cell.2010.11.055 – volume: 49 start-page: 219 year: 1968 ident: 10.1016/j.ajhg.2014.03.020_bib3 article-title: Chemical differentiation along metaphase chromosomes publication-title: Exp. Cell Res. doi: 10.1016/0014-4827(68)90538-7 – year: 2005 ident: 10.1016/j.ajhg.2014.03.020_bib11 – volume: 42 start-page: D986 issue: Database issue year: 2014 ident: 10.1016/j.ajhg.2014.03.020_bib41 article-title: The Database of Genomic Variants: a curated collection of structural variation in the human genome publication-title: Nucleic Acids Res. doi: 10.1093/nar/gkt958 – volume: 144 start-page: 646 year: 2011 ident: 10.1016/j.ajhg.2014.03.020_bib30 article-title: Hallmarks of cancer: the next generation publication-title: Cell doi: 10.1016/j.cell.2011.02.013 – volume: 318 start-page: 420 year: 2007 ident: 10.1016/j.ajhg.2014.03.020_bib17 article-title: Paired-end mapping reveals extensive structural variation in the human genome publication-title: Science doi: 10.1126/science.1149504 – volume: 41 start-page: D64 issue: Database issue year: 2013 ident: 10.1016/j.ajhg.2014.03.020_bib32 article-title: The UCSC Genome Browser database: extensions and updates 2013 publication-title: Nucleic Acids Res. – volume: 15 start-page: 484 year: 2013 ident: 10.1016/j.ajhg.2014.03.020_bib39 article-title: American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders publication-title: Genet. Med. doi: 10.1038/gim.2013.49 – year: 1992 ident: 10.1016/j.ajhg.2014.03.020_bib9 – volume: 456 start-page: 53 year: 2008 ident: 10.1016/j.ajhg.2014.03.020_bib16 article-title: Accurate whole human genome sequencing using reversible terminator chemistry publication-title: Nature doi: 10.1038/nature07517 – volume: 44 start-page: 390 year: 2012 ident: 10.1016/j.ajhg.2014.03.020_bib23 article-title: Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration publication-title: Nat. Genet. doi: 10.1038/ng.2202 – volume: 15 start-page: 733 year: 2013 ident: 10.1016/j.ajhg.2014.03.020_bib36 article-title: ACMG clinical laboratory standards for next-generation sequencing publication-title: Genet. Med. doi: 10.1038/gim.2013.92 – volume: 24 start-page: 319 year: 1960 ident: 10.1016/j.ajhg.2014.03.020_bib2 article-title: A proposed standard system of nomenclature of human mitotic chromosomes (Denver, Colorado) publication-title: Ann. Hum. Genet. doi: 10.1111/j.1469-1809.1960.tb01744.x – volume: 67 start-page: 147 year: 1972 ident: 10.1016/j.ajhg.2014.03.020_bib4 article-title: Identification of chromosome bivalents in human male meiosis by quinacrine mustard fluorescence analysis publication-title: Hereditas doi: 10.1111/j.1601-5223.1971.tb02368.x – volume: 215 start-page: 403 year: 1990 ident: 10.1016/j.ajhg.2014.03.020_bib33 article-title: Basic local alignment search tool publication-title: J. Mol. Biol. doi: 10.1016/S0022-2836(05)80360-2 – volume: 467 start-page: 1109 year: 2010 ident: 10.1016/j.ajhg.2014.03.020_bib27 article-title: The patterns and dynamics of genomic instability in metastatic pancreatic cancer publication-title: Nature doi: 10.1038/nature09460 – volume: 12 start-page: 656 year: 2002 ident: 10.1016/j.ajhg.2014.03.020_bib34 article-title: BLAT—the BLAST-like alignment tool publication-title: Genome Res. doi: 10.1101/gr.229202 – volume: 91 start-page: 1128 year: 2012 ident: 10.1016/j.ajhg.2014.03.020_bib24 article-title: Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities publication-title: Am. J. Hum. Genet. doi: 10.1016/j.ajhg.2012.10.016 – year: 2013 ident: 10.1016/j.ajhg.2014.03.020_bib25 article-title: Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations publication-title: Eur. J. Hum. Genet. – volume: 11 start-page: 317 year: 1972 ident: 10.1016/j.ajhg.2014.03.020_bib5 article-title: Paris Conference (1971): Standardization in human cytogenetics publication-title: Cytogenetics – volume: 15 start-page: 901 year: 2013 ident: 10.1016/j.ajhg.2014.03.020_bib40 article-title: ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013 publication-title: Genet. Med. doi: 10.1038/gim.2013.129 – volume: 367 start-page: 2226 year: 2012 ident: 10.1016/j.ajhg.2014.03.020_bib20 article-title: Clinical diagnosis by whole-genome sequencing of a prenatal sample publication-title: N. Engl. J. Med. doi: 10.1056/NEJMoa1208594 – volume: 132 start-page: 537 year: 2013 ident: 10.1016/j.ajhg.2014.03.020_bib22 article-title: Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate publication-title: Hum. Genet. doi: 10.1007/s00439-013-1263-x – volume: 340 start-page: 284 year: 2013 ident: 10.1016/j.ajhg.2014.03.020_bib37 article-title: Next-generation sequencing in the clinic: promises and challenges publication-title: Cancer Lett. doi: 10.1016/j.canlet.2012.11.025 – reference: 23315544 - J Med Genet. 2013 Mar;50(3):144-50 – reference: 23619274 - Genet Med. 2013 Jun;15(6):484-94 – reference: 22521361 - Cell. 2012 Apr 27;149(3):525-37 – reference: 23769412 - Mol Oncol. 2013 Aug;7(4):743-55 – reference: 18326688 - Genome Res. 2008 Jul;18(7):1143-9 – reference: 12045153 - Genome Res. 2002 Jun;12(6):996-1006 – reference: 19344873 - Am J Hum Genet. 2009 Apr;84(4):524-33 – reference: 23887774 - Genet Med. 2013 Sep;15(9):733-47 – reference: 6321164 - EMBO J. 1983;2(12):2375-83 – reference: 24174537 - Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92 – reference: 23217328 - Am J Hum Genet. 2012 Dec 7;91(6):1128-34 – reference: 21376230 - Cell. 2011 Mar 4;144(5):646-74 – reference: 23354975 - Hum Genet. 2013 May;132(5):537-52 – reference: 4041569 - Birth Defects Orig Artic Ser. 1985;21(1):1-117 – reference: 11932250 - Genome Res. 2002 Apr;12(4):656-64 – reference: 20033038 - Nature. 2009 Dec 24;462(7276):1005-10 – reference: 7297128 - Cytogenet Cell Genet. 1981;31(1):5-23 – reference: 21473983 - Am J Hum Genet. 2011 Apr 8;88(4):469-81 – reference: 18987734 - Nature. 2008 Nov 6;456(7218):53-9 – reference: 21215367 - Cell. 2011 Jan 7;144(1):27-40 – reference: 24311194 - Am J Med Genet A. 2014 Feb;164A(2):377-85 – reference: 23215558 - N Engl J Med. 2012 Dec 6;367(23):2226-32 – reference: 2231712 - J Mol Biol. 1990 Oct 5;215(3):403-10 – reference: 23155063 - Nucleic Acids Res. 2013 Jan;41(Database issue):D64-9 – reference: 21681105 - Genet Med. 2011 Jul;13(7):676-9 – reference: 24071793 - Genet Med. 2013 Nov;15(11):901-9 – reference: 5640698 - Exp Cell Res. 1968 Jan;49(1):219-22 – reference: 4647417 - Cytogenetics. 1972;11(5):317-62 – reference: 14447289 - Ann Hum Genet. 1960 Dec;24:319-25 – reference: 6327071 - Cell. 1984 Jun;37(2):511-20 – reference: 20981101 - Nature. 2010 Oct 28;467(7319):1109-13 – reference: 24105367 - Eur J Hum Genet. 2014 May;22(5):652-9 – reference: 747930 - Cytogenet Cell Genet. 1978;21(6):309-409 – reference: 24253300 - Nucleic Acids Res. 2014 Jan;42(Database issue):D1027-32 – reference: 4142004 - Hereditas. 1972;67(1):147-9 – reference: 22388000 - Nat Genet. 2012 Apr;44(4):390-7, S1 – reference: 23174106 - Cancer Lett. 2013 Nov 1;340(2):284-95 – reference: 17901297 - Science. 2007 Oct 19;318(5849):420-6 |
| SSID | ssj0011803 |
| Score | 2.3185947 |
| Snippet | With recent rapid advances in genomic technologies, precise delineation of structural chromosome rearrangements at the nucleotide level is becoming... |
| SourceID | pubmedcentral proquest pubmed crossref elsevier |
| SourceType | Open Access Repository Aggregation Database Index Database Enrichment Source Publisher |
| StartPage | 695 |
| SubjectTerms | Base Sequence Chromosome Aberrations - classification Chromosomes Cytogenetic Analysis - classification DNA Mutational Analysis Genome, Human - genetics Genomics Humans Information sharing Molecular Sequence Data Sequence Alignment Software Terminology as Topic |
| Title | Describing Sequencing Results of Structural Chromosome Rearrangements with a Suggested Next-Generation Cytogenetic Nomenclature |
| URI | https://dx.doi.org/10.1016/j.ajhg.2014.03.020 https://www.ncbi.nlm.nih.gov/pubmed/24746958 https://www.proquest.com/docview/1524252633 https://www.proquest.com/docview/1521331307 https://www.proquest.com/docview/1534809214 https://pubmed.ncbi.nlm.nih.gov/PMC4067557 |
| Volume | 94 |
| hasFullText | 1 |
| inHoldings | 1 |
| isFullTextHit | |
| isPrint | |
| link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Lb9QwELaqSkhcEFAegVK5EjcUNX7FyRFWVC1Ie-hSaW-W49jbrbZJ1d099MRfZ8Z5iAW0B25JPImSzMPzJTOfCflo69yp0odUOqZSCRl9WnAH7h5KVTDPuLWx2mKaX1zLb3M1PyCToRcGyyr72N_F9Bit-yNn_ds8u18uscc34zC5I-McAhnkBBWyiE188y_jnwRWZGJIgVG6b5zparzs7c0Cy7tkJDrFNb__PTn9nXz-WUP526R0_pw867NJ-rm74RfkwDcvyZNufcnHI_ITUCVEBQC_CzrraqZx88qvt6vNmraBziJ9LFJvUKTJvWvX7Z0HAfvwgF0Hsf-N4rdaaulsu1jEr6N0inC5I6xGvdLJ46YFQ8R-SDpFSge3inyhr8j1-dcfk4u0X3EhdYrlm9TrUgtXV3Wmg2Q1DyWrwKVrX_LcCUAigDm1znyeeet1EZyUXoVKlpBn1k5w8ZocNm3j3xKau8CwqxcuWMnASqtC4VTBa8dr6zKVEDa8auN6OnJcFWNlhrqzW4PqMagekwkD6knIp_Gc-46MY6-0GjRodkzKwGyx97zjQd2md-i1gTQHohvPhUjI6TgMroj_V2zj222UAcQPSYHeJwM2mpWcyYS86SxofBQutczBRRKid2xrFEAq8N2RZnkTKcElAj-l3_3nI78nT3GvK-Q8Jodge_4DJFub6gRgxuX3k-hTvwABcisy |
| linkProvider | Elsevier |
| linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3Nb9MwFLfGEILLxDcZA4zEDUWLHTtOjlAxdTB6oJvUm-U4dtepS6a1PezEv857zocooB64VfFL1OR9-PeS936PkA-myqwsnI-FZTIWgOjjnFtwd1_InDnGjQnVFpNsfCG-zuRsj4z6Xhgsq-xifxvTQ7Tujhx3T_P4ZrHAHt-Ew-aOjHOYyIh75D6gAYXzG05nn4dPCSxP0h4Do3jXOdMWeZmryznWd4nAdIpDv_-9O_2NPv8sovxtVzp5TA46OEk_tf_4Cdlz9VPyoB0wefeM_IS0EsICZL9zOm2LpvHnD7faLNcr2ng6DfyxyL1BkSf3ulk11w4EzO0tth2EBjiKL2upodPNfB5ej9IJ5sstYzUqlo7u1g1YIjZE0glyOthlIAx9Ti5OvpyPxnE3ciG2kmXr2KlCpbYqq0R5wSruC1aCT1eu4JlNIRWBpFOpxGWJM07l3grhpC9FAUCzsilPX5D9uqndK0Iz6xm29cIFS-FZYaTPrcx5ZXllbCIjwvpHrW3HR45jMZa6Lzy70qgejerRSapBPRH5OJxz07Jx7JSWvQb1lk1p2C52nnfUq1t3Hr3SgHMgvPEsTSPyflgGX8QPLKZ2zSbIQMoPqEDtkklFnhSciYi8bC1ouBUulMjARyKitmxrEEAu8O2VenEZOMEFZn5SHf7nLb8jD8fn38_02enk22vyCFfaqs4jsg926N4A8lqXb4Nn_QL0Pi1Y |
| openUrl | ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Describing+Sequencing+Results+of+Structural+Chromosome+Rearrangements+with+a+Suggested+Next-Generation+Cytogenetic+Nomenclature&rft.jtitle=American+journal+of+human+genetics&rft.au=Ordulu%2C+Zehra&rft.au=Wong%2C+Kristen%C2%A0E.&rft.au=Currall%2C+Benjamin%C2%A0B.&rft.au=Ivanov%2C+Andrew%C2%A0R.&rft.date=2014-05-01&rft.issn=0002-9297&rft.volume=94&rft.issue=5&rft.spage=695&rft.epage=709&rft_id=info:doi/10.1016%2Fj.ajhg.2014.03.020&rft.externalDBID=n%2Fa&rft.externalDocID=10_1016_j_ajhg_2014_03_020 |
| thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=0002-9297&client=summon |
| thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=0002-9297&client=summon |
| thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=0002-9297&client=summon |