Pedigree-based estimation of human mobile element retrotransposition rates
Germline mutation rates in humans have been estimated for a variety of mutation types, including single-nucleotide and large structural variants. Here, we directly measure the germline retrotransposition rate for the three active retrotransposon elements: L1, , and SVA. We used three tools for calli...
Saved in:
Published in | Genome research Vol. 29; no. 10; pp. 1567 - 1577 |
---|---|
Main Authors | , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
United States
Cold Spring Harbor Laboratory Press
01.10.2019
|
Subjects | |
Online Access | Get full text |
Cover
Loading…
Abstract | Germline mutation rates in humans have been estimated for a variety of mutation types, including single-nucleotide and large structural variants. Here, we directly measure the germline retrotransposition rate for the three active retrotransposon elements: L1,
, and SVA. We used three tools for calling mobile element insertions (MEIs) (MELT, RUFUS, and TranSurVeyor) on blood-derived whole-genome sequence (WGS) data from 599 CEPH individuals, comprising 33 three-generation pedigrees. We identified 26 de novo MEIs in 437 births. The retrotransposition rate estimates for
elements, one in 40 births, is roughly half the rate estimated using phylogenetic analyses, a difference in magnitude similar to that observed for single-nucleotide variants. The L1 retrotransposition rate is one in 63 births and is within range of previous estimates (1:20-1:200 births). The SVA retrotransposition rate, one in 63 births, is much higher than the previous estimate of one in 900 births. Our large, three-generation pedigrees allowed us to assess parent-of-origin effects and the timing of insertion events in either gametogenesis or early embryonic development. We find a statistically significant paternal bias in
retrotransposition. Our study represents the first in-depth analysis of the rate and dynamics of human retrotransposition from WGS data in three-generation human pedigrees. |
---|---|
AbstractList | Germline mutation rates in humans have been estimated for a variety of mutation types, including single-nucleotide and large structural variants. Here, we directly measure the germline retrotransposition rate for the three active retrotransposon elements: L1, Alu, and SVA. We used three tools for calling mobile element insertions (MEIs) (MELT, RUFUS, and TranSurVeyor) on blood-derived whole-genome sequence (WGS) data from 599 CEPH individuals, comprising 33 three-generation pedigrees. We identified 26 de novo MEIs in 437 births. The retrotransposition rate estimates for Alu elements, one in 40 births, is roughly half the rate estimated using phylogenetic analyses, a difference in magnitude similar to that observed for single-nucleotide variants. The L1 retrotransposition rate is one in 63 births and is within range of previous estimates (1:20–1:200 births). The SVA retrotransposition rate, one in 63 births, is much higher than the previous estimate of one in 900 births. Our large, three-generation pedigrees allowed us to assess parent-of-origin effects and the timing of insertion events in either gametogenesis or early embryonic development. We find a statistically significant paternal bias in Alu retrotransposition. Our study represents the first in-depth analysis of the rate and dynamics of human retrotransposition from WGS data in three-generation human pedigrees. Germline mutation rates in humans have been estimated for a variety of mutation types, including single-nucleotide and large structural variants. Here, we directly measure the germline retrotransposition rate for the three active retrotransposon elements: L1, Alu , and SVA. We used three tools for calling mobile element insertions (MEIs) (MELT, RUFUS, and TranSurVeyor) on blood-derived whole-genome sequence (WGS) data from 599 CEPH individuals, comprising 33 three-generation pedigrees. We identified 26 de novo MEIs in 437 births. The retrotransposition rate estimates for Alu elements, one in 40 births, is roughly half the rate estimated using phylogenetic analyses, a difference in magnitude similar to that observed for single-nucleotide variants. The L1 retrotransposition rate is one in 63 births and is within range of previous estimates (1:20–1:200 births). The SVA retrotransposition rate, one in 63 births, is much higher than the previous estimate of one in 900 births. Our large, three-generation pedigrees allowed us to assess parent-of-origin effects and the timing of insertion events in either gametogenesis or early embryonic development. We find a statistically significant paternal bias in Alu retrotransposition. Our study represents the first in-depth analysis of the rate and dynamics of human retrotransposition from WGS data in three-generation human pedigrees. Germline mutation rates in humans have been estimated for a variety of mutation types, including single-nucleotide and large structural variants. Here, we directly measure the germline retrotransposition rate for the three active retrotransposon elements: L1, , and SVA. We used three tools for calling mobile element insertions (MEIs) (MELT, RUFUS, and TranSurVeyor) on blood-derived whole-genome sequence (WGS) data from 599 CEPH individuals, comprising 33 three-generation pedigrees. We identified 26 de novo MEIs in 437 births. The retrotransposition rate estimates for elements, one in 40 births, is roughly half the rate estimated using phylogenetic analyses, a difference in magnitude similar to that observed for single-nucleotide variants. The L1 retrotransposition rate is one in 63 births and is within range of previous estimates (1:20-1:200 births). The SVA retrotransposition rate, one in 63 births, is much higher than the previous estimate of one in 900 births. Our large, three-generation pedigrees allowed us to assess parent-of-origin effects and the timing of insertion events in either gametogenesis or early embryonic development. We find a statistically significant paternal bias in retrotransposition. Our study represents the first in-depth analysis of the rate and dynamics of human retrotransposition from WGS data in three-generation human pedigrees. |
Author | Ha, Hongseok Xing, Jinchuan Witherspoon, David J Baird, Lisa Jorde, Lynn B Farrell, Andrew Feusier, Julie Watkins, W Scott Thomas, Jainy |
AuthorAffiliation | 1 Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA 3 Department of Genetics, Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, New Jersey 08854, USA 2 USTAR Center for Genetic Discovery, Salt Lake City, Utah 84112, USA |
AuthorAffiliation_xml | – name: 1 Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA – name: 3 Department of Genetics, Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, New Jersey 08854, USA – name: 2 USTAR Center for Genetic Discovery, Salt Lake City, Utah 84112, USA |
Author_xml | – sequence: 1 givenname: Julie surname: Feusier fullname: Feusier, Julie organization: Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA – sequence: 2 givenname: W Scott surname: Watkins fullname: Watkins, W Scott organization: Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA – sequence: 3 givenname: Jainy surname: Thomas fullname: Thomas, Jainy organization: Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA – sequence: 4 givenname: Andrew surname: Farrell fullname: Farrell, Andrew organization: USTAR Center for Genetic Discovery, Salt Lake City, Utah 84112, USA – sequence: 5 givenname: David J surname: Witherspoon fullname: Witherspoon, David J organization: Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA – sequence: 6 givenname: Lisa surname: Baird fullname: Baird, Lisa organization: Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA – sequence: 7 givenname: Hongseok surname: Ha fullname: Ha, Hongseok organization: Department of Genetics, Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, New Jersey 08854, USA – sequence: 8 givenname: Jinchuan surname: Xing fullname: Xing, Jinchuan organization: Department of Genetics, Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, New Jersey 08854, USA – sequence: 9 givenname: Lynn B surname: Jorde fullname: Jorde, Lynn B organization: Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah 84112, USA |
BackLink | https://www.ncbi.nlm.nih.gov/pubmed/31575651$$D View this record in MEDLINE/PubMed |
BookMark | eNpdkc1P3DAQxa1qUYGFY69VJC5csniS-OuChBDQIiQ4cLdsZ7IblNiLnSDx39ewFLWcZkbz09N7eodk4YNHQn4AXQFQOFvHVdUIxVk-5TdyAKxRJWu4WuSdSlkqymCfHKb0RCmtGym_k_0amGCcwQG5fcC2X0fE0pqEbYFp6kcz9cEXoSs282h8MQbbD1jggCP6qYg4xTBF49M2pP4djWbCdET2OjMkPP6YS_J4ffV4-au8u7_5fXlxV7pGwlRK4LKlKKzpuHPc2cY4Y7BSYFroWts6Y4UEavKqaCc7BLRMqEpaTrmql-R8J7ud7Yity5aiGfQ2Zt_xVQfT6_8_vt_odXjRXAhoALLA6YdADM9zDqzHPjkcBuMxzElXNaUgVAMsoydf0KcwR5_TvVFcKMlFlalyR7kYUorYfZoBqt9K0uuodyXlU2b-578JPum_rdR_AIzQkcE |
CitedBy_id | crossref_primary_10_1186_s13059_022_02818_4 crossref_primary_10_1016_j_celrep_2021_109530 crossref_primary_10_1038_s41598_021_92444_0 crossref_primary_10_1016_j_isci_2023_108214 crossref_primary_10_1093_nar_gkae448 crossref_primary_10_1266_ggs_22_00038 crossref_primary_10_1186_s12958_020_0564_x crossref_primary_10_1098_rspb_2023_2775 crossref_primary_10_1016_j_ab_2020_113779 crossref_primary_10_1093_gbe_evaa086 crossref_primary_10_1007_s11033_021_06258_4 crossref_primary_10_1016_j_gene_2022_146799 crossref_primary_10_1038_s41467_022_35180_x crossref_primary_10_1093_molbev_msaa194 crossref_primary_10_1126_sciadv_adh9543 crossref_primary_10_3390_ijms23031756 crossref_primary_10_1371_journal_pone_0289346 crossref_primary_10_1002_cphg_102 crossref_primary_10_1038_s41431_022_01137_3 crossref_primary_10_3389_fbinf_2022_1062328 crossref_primary_10_1101_gr_276451_121 crossref_primary_10_1186_s13100_020_00222_y crossref_primary_10_1371_journal_pgen_1009324 crossref_primary_10_3390_biology11071032 crossref_primary_10_1016_j_ajhg_2021_02_012 crossref_primary_10_1186_s13100_020_00207_x crossref_primary_10_1016_j_xgen_2023_100291 crossref_primary_10_1016_j_ajhg_2023_09_008 crossref_primary_10_1038_s41431_022_01250_3 crossref_primary_10_1038_s41576_020_0251_y crossref_primary_10_1177_15353702221082612 crossref_primary_10_1111_mec_15936 crossref_primary_10_1093_nar_gkac128 crossref_primary_10_3390_ijms241411548 crossref_primary_10_1073_pnas_2216550120 crossref_primary_10_3390_ijms21186562 crossref_primary_10_1093_gbe_evaa068 crossref_primary_10_1101_gr_275515_121 crossref_primary_10_1038_s41439_024_00280_1 crossref_primary_10_1186_s13100_021_00254_y crossref_primary_10_1186_s13100_021_00256_w crossref_primary_10_1093_molbev_msab062 crossref_primary_10_1016_j_xgen_2024_100498 crossref_primary_10_1007_s11357_022_00580_w crossref_primary_10_1007_s00018_021_04012_4 crossref_primary_10_1007_s00018_024_05195_2 crossref_primary_10_1016_j_xhgg_2021_100023 crossref_primary_10_1093_nar_gkad821 crossref_primary_10_1038_s41593_024_01650_2 crossref_primary_10_1038_s41467_024_46434_1 crossref_primary_10_1038_s41467_021_24041_8 crossref_primary_10_1101_mcs_a006242 crossref_primary_10_1186_s13100_020_00228_6 crossref_primary_10_1371_journal_pgen_1009827 |
Cites_doi | 10.1002/humu.1134 10.1126/science.1183439 10.1073/pnas.0601324103 10.1146/annurev.genom.9.081307.164441 10.1093/nar/gky685 10.1101/gr.093435.109 10.1111/j.1469-1809.1989.tb01803.x 10.1016/j.gde.2012.02.006 10.1093/bib/bbw072 10.1038/nature06258 10.1002/bies.201700189 10.1016/j.gene.2006.01.019 10.1186/gb-2013-14-3-r22 10.1186/s13100-015-0055-3 10.1101/gr.085589.108 10.1038/313101a0 10.1038/s41525-018-0061-8 10.1038/nature09534 10.1038/s41588-018-0259-9 10.1073/pnas.0831042100 10.1186/s13100-016-0065-9 10.1101/gr.3492605 10.1101/gr.229202. Article published online before March 2002 10.1038/353864a0 10.1038/332164a0 10.1093/bioinformatics/btq033 10.1016/0888-7543(90)90491-C 10.1186/s13100-017-0093-0 10.1101/gr.218032.116 10.1016/j.tig.2007.02.006 10.1101/gr.219022.116 10.1038/nbt.1754 10.1038/nmeth.4267 10.1101/gr.093153.109 10.1101/gr.201814.115 10.1101/gr.9.9.868 10.1126/science.1186802 10.1093/bioinformatics/btp352 10.1016/j.tig.2013.04.005 10.1038/nature24018 10.1016/0168-9525(92)90262-3 10.1038/nrg2640 10.1038/74184 10.1101/gad.1803909 10.1016/j.ajhg.2014.07.003 10.1038/ng898 10.1093/bioinformatics/btu393 10.1186/s13100-015-0041-9 10.1101/gr.089789.108 10.1016/j.ajhg.2017.01.017. 10.1016/j.ajhg.2015.05.008 10.1093/nar/gkm317 10.1186/gb-2012-13-6-r45 10.1038/s41467-018-08148-z 10.1038/nmeth.3654 10.1093/bib/bbs017 10.1134/S0006297909120153 10.1101/gr.091827.109 10.1126/science.aac7247 10.1093/gbe/evv167 10.1101/gr.229102. Article published online before print in May 2002 10.1146/annurev-genom-031714-125740 10.1016/j.ygeno.2005.05.009 10.1186/s13059-018-1577-z 10.1093/bioinformatics/btp324 10.1093/hmg/ddm108 10.1101/gr.115956.110 10.1101/552117 10.1038/nrc.2017.35 10.1038/nature09525 10.1038/nature18964 10.1038/ejhg.2011.266 10.1186/s13100-016-0070-z 10.1101/gr.081737.108 10.1038/s41576-018-0050-x 10.1371/journal.pgen.1003242 10.1038/s41588-018-0107-y 10.1073/pnas.1602336113 10.1038/ng.806 10.1186/s13100-018-0128-1 10.1093/bioinformatics/btu314 10.1016/j.cell.2010.05.026 10.1126/science.1251343 10.1038/9638, 10.1006/mgme.1999.2864 10.1101/471375 10.1056/NEJMra1510092 10.1038/ng.3469 10.1101/gr.154625.113 10.1073/pnas.1701069114 10.1186/s13100-017-0089-9 10.1101/gr.106419.110 10.1038/nature02168 10.1093/nar/gkw925 |
ContentType | Journal Article |
Copyright | 2019 Feusier et al.; Published by Cold Spring Harbor Laboratory Press. Copyright Cold Spring Harbor Laboratory Press Oct 2019 2019 |
Copyright_xml | – notice: 2019 Feusier et al.; Published by Cold Spring Harbor Laboratory Press. – notice: Copyright Cold Spring Harbor Laboratory Press Oct 2019 – notice: 2019 |
DBID | CGR CUY CVF ECM EIF NPM AAYXX CITATION 7TM 8FD FR3 P64 RC3 7X8 5PM |
DOI | 10.1101/gr.247965.118 |
DatabaseName | Medline MEDLINE MEDLINE (Ovid) MEDLINE MEDLINE PubMed CrossRef Nucleic Acids Abstracts Technology Research Database Engineering Research Database Biotechnology and BioEngineering Abstracts Genetics Abstracts MEDLINE - Academic PubMed Central (Full Participant titles) |
DatabaseTitle | MEDLINE Medline Complete MEDLINE with Full Text PubMed MEDLINE (Ovid) CrossRef Genetics Abstracts Engineering Research Database Technology Research Database Nucleic Acids Abstracts Biotechnology and BioEngineering Abstracts MEDLINE - Academic |
DatabaseTitleList | Genetics Abstracts CrossRef MEDLINE MEDLINE - Academic |
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 | Anatomy & Physiology Chemistry Biology |
DocumentTitleAlternate | Feusier et al |
EISSN | 1549-5469 |
EndPage | 1577 |
ExternalDocumentID | 10_1101_gr_247965_118 31575651 |
Genre | Research Support, Non-U.S. Gov't Journal Article Research Support, N.I.H., Extramural |
GrantInformation_xml | – fundername: NHGRI NIH HHS grantid: R00 HG005846 – fundername: NIGMS NIH HHS grantid: R01 GM059290 – fundername: NIGMS NIH HHS grantid: R35 GM118335 – fundername: ; grantid: GM118335; GM059290; R00HG005846 |
GroupedDBID | --- .GJ 18M 29H 2WC 39C 4.4 53G 5GY 5RE 5VS AAYOK AAZTW ABDIX ABDNZ ACGFO ACYGS ADBBV ADNWM AEILP AENEX AI. ALMA_UNASSIGNED_HOLDINGS BAWUL BTFSW C1A CGR CS3 CUY CVF DIK DU5 E3Z EBS ECM EIF EJD F5P FRP GX1 H13 HYE IH2 K-O KQ8 MV1 NPM R.V RCX RHF RHI RNS RPM RXW SJN TAE TR2 VH1 W8F WOQ YKV ZCG ZGI ZXP AAYXX CITATION 7TM 8FD FR3 P64 RC3 7X8 5PM ABRJW |
ID | FETCH-LOGICAL-c481t-8168d0e7baf6cc6cb4acaae291ad1fdbdcab7810adbd90f8fe1eb57928b60693 |
IEDL.DBID | RPM |
ISSN | 1088-9051 |
IngestDate | Tue Sep 17 21:20:18 EDT 2024 Fri Oct 25 07:37:45 EDT 2024 Tue Nov 19 05:30:31 EST 2024 Thu Nov 21 20:46:36 EST 2024 Sat Nov 02 12:25:51 EDT 2024 |
IsDoiOpenAccess | true |
IsOpenAccess | true |
IsPeerReviewed | true |
IsScholarly | true |
Issue | 10 |
Language | English |
License | 2019 Feusier et al.; Published by Cold Spring Harbor Laboratory Press. This article, published in Genome Research, is available under a Creative Commons License (Attribution-NonCommercial 4.0 International), as described at http://creativecommons.org/licenses/by-nc/4.0/. |
LinkModel | DirectLink |
MergedId | FETCHMERGED-LOGICAL-c481t-8168d0e7baf6cc6cb4acaae291ad1fdbdcab7810adbd90f8fe1eb57928b60693 |
Notes | ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
OpenAccessLink | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771411/ |
PMID | 31575651 |
PQID | 2306798672 |
PQPubID | 2049132 |
PageCount | 11 |
ParticipantIDs | pubmedcentral_primary_oai_pubmedcentral_nih_gov_6771411 proquest_miscellaneous_2300179415 proquest_journals_2306798672 crossref_primary_10_1101_gr_247965_118 pubmed_primary_31575651 |
PublicationCentury | 2000 |
PublicationDate | 2019-10-01 |
PublicationDateYYYYMMDD | 2019-10-01 |
PublicationDate_xml | – month: 10 year: 2019 text: 2019-10-01 day: 01 |
PublicationDecade | 2010 |
PublicationPlace | United States |
PublicationPlace_xml | – name: United States – name: New York |
PublicationTitle | Genome research |
PublicationTitleAlternate | Genome Res |
PublicationYear | 2019 |
Publisher | Cold Spring Harbor Laboratory Press |
Publisher_xml | – name: Cold Spring Harbor Laboratory Press |
References | 2021111811192503000_29.10.1567.71 2021111811192503000_29.10.1567.72 2021111811192503000_29.10.1567.70 2021111811192503000_29.10.1567.31 2021111811192503000_29.10.1567.75 2021111811192503000_29.10.1567.32 2021111811192503000_29.10.1567.76 2021111811192503000_29.10.1567.73 2021111811192503000_29.10.1567.30 2021111811192503000_29.10.1567.74 2021111811192503000_29.10.1567.24 2021111811192503000_29.10.1567.68 2021111811192503000_29.10.1567.25 2021111811192503000_29.10.1567.69 2021111811192503000_29.10.1567.22 2021111811192503000_29.10.1567.66 2021111811192503000_29.10.1567.23 2021111811192503000_29.10.1567.67 2021111811192503000_29.10.1567.28 2021111811192503000_29.10.1567.29 2021111811192503000_29.10.1567.26 2021111811192503000_29.10.1567.27 2021111811192503000_29.10.1567.82 2021111811192503000_29.10.1567.83 2021111811192503000_29.10.1567.80 2021111811192503000_29.10.1567.81 2021111811192503000_29.10.1567.42 2021111811192503000_29.10.1567.86 2021111811192503000_29.10.1567.43 2021111811192503000_29.10.1567.87 2021111811192503000_29.10.1567.40 2021111811192503000_29.10.1567.84 2021111811192503000_29.10.1567.41 2021111811192503000_29.10.1567.85 2021111811192503000_29.10.1567.35 2021111811192503000_29.10.1567.79 2021111811192503000_29.10.1567.36 2021111811192503000_29.10.1567.33 2021111811192503000_29.10.1567.77 2021111811192503000_29.10.1567.34 2021111811192503000_29.10.1567.78 2021111811192503000_29.10.1567.39 2021111811192503000_29.10.1567.37 2021111811192503000_29.10.1567.38 (2021111811192503000_29.10.1567.62) 1984; 36 2021111811192503000_29.10.1567.90 2021111811192503000_29.10.1567.93 2021111811192503000_29.10.1567.50 2021111811192503000_29.10.1567.94 2021111811192503000_29.10.1567.91 2021111811192503000_29.10.1567.92 2021111811192503000_29.10.1567.53 2021111811192503000_29.10.1567.10 2021111811192503000_29.10.1567.54 2021111811192503000_29.10.1567.51 2021111811192503000_29.10.1567.95 2021111811192503000_29.10.1567.52 2021111811192503000_29.10.1567.1 2021111811192503000_29.10.1567.46 2021111811192503000_29.10.1567.47 2021111811192503000_29.10.1567.3 2021111811192503000_29.10.1567.44 2021111811192503000_29.10.1567.88 2021111811192503000_29.10.1567.2 2021111811192503000_29.10.1567.45 2021111811192503000_29.10.1567.89 2021111811192503000_29.10.1567.5 2021111811192503000_29.10.1567.4 2021111811192503000_29.10.1567.7 2021111811192503000_29.10.1567.48 2021111811192503000_29.10.1567.6 2021111811192503000_29.10.1567.49 2021111811192503000_29.10.1567.9 2021111811192503000_29.10.1567.8 2021111811192503000_29.10.1567.60 2021111811192503000_29.10.1567.61 2021111811192503000_29.10.1567.20 2021111811192503000_29.10.1567.64 2021111811192503000_29.10.1567.21 2021111811192503000_29.10.1567.65 2021111811192503000_29.10.1567.63 2021111811192503000_29.10.1567.13 2021111811192503000_29.10.1567.57 2021111811192503000_29.10.1567.14 2021111811192503000_29.10.1567.58 2021111811192503000_29.10.1567.11 2021111811192503000_29.10.1567.55 2021111811192503000_29.10.1567.12 2021111811192503000_29.10.1567.56 2021111811192503000_29.10.1567.17 2021111811192503000_29.10.1567.18 2021111811192503000_29.10.1567.15 2021111811192503000_29.10.1567.59 2021111811192503000_29.10.1567.16 2021111811192503000_29.10.1567.19 |
References_xml | – ident: 2021111811192503000_29.10.1567.59 doi: 10.1002/humu.1134 – ident: 2021111811192503000_29.10.1567.6 doi: 10.1126/science.1183439 – ident: 2021111811192503000_29.10.1567.83 doi: 10.1073/pnas.0601324103 – ident: 2021111811192503000_29.10.1567.70 doi: 10.1146/annurev.genom.9.081307.164441 – ident: 2021111811192503000_29.10.1567.73 doi: 10.1093/nar/gky685 – ident: 2021111811192503000_29.10.1567.17 doi: 10.1101/gr.093435.109 – ident: 2021111811192503000_29.10.1567.47 doi: 10.1111/j.1469-1809.1989.tb01803.x – ident: 2021111811192503000_29.10.1567.37 doi: 10.1016/j.gde.2012.02.006 – ident: 2021111811192503000_29.10.1567.76 doi: 10.1093/bib/bbw072 – ident: 2021111811192503000_29.10.1567.44 doi: 10.1038/nature06258 – ident: 2021111811192503000_29.10.1567.74 doi: 10.1002/bies.201700189 – ident: 2021111811192503000_29.10.1567.16 doi: 10.1016/j.gene.2006.01.019 – ident: 2021111811192503000_29.10.1567.27 doi: 10.1186/gb-2013-14-3-r22 – ident: 2021111811192503000_29.10.1567.25 doi: 10.1186/s13100-015-0055-3 – ident: 2021111811192503000_29.10.1567.94 doi: 10.1101/gr.085589.108 – ident: 2021111811192503000_29.10.1567.91 doi: 10.1038/313101a0 – ident: 2021111811192503000_29.10.1567.67 doi: 10.1038/s41525-018-0061-8 – ident: 2021111811192503000_29.10.1567.1 doi: 10.1038/nature09534 – ident: 2021111811192503000_29.10.1567.46 doi: 10.1038/s41588-018-0259-9 – ident: 2021111811192503000_29.10.1567.9 doi: 10.1073/pnas.0831042100 – ident: 2021111811192503000_29.10.1567.38 doi: 10.1186/s13100-016-0065-9 – ident: 2021111811192503000_29.10.1567.36 doi: 10.1101/gr.3492605 – ident: 2021111811192503000_29.10.1567.52 doi: 10.1101/gr.229202. Article published online before March 2002 – ident: 2021111811192503000_29.10.1567.89 doi: 10.1038/353864a0 – ident: 2021111811192503000_29.10.1567.51 doi: 10.1038/332164a0 – ident: 2021111811192503000_29.10.1567.71 doi: 10.1093/bioinformatics/btq033 – ident: 2021111811192503000_29.10.1567.18 doi: 10.1016/0888-7543(90)90491-C – ident: 2021111811192503000_29.10.1567.30 doi: 10.1186/s13100-017-0093-0 – ident: 2021111811192503000_29.10.1567.31 doi: 10.1101/gr.218032.116 – ident: 2021111811192503000_29.10.1567.63 doi: 10.1016/j.tig.2007.02.006 – ident: 2021111811192503000_29.10.1567.75 doi: 10.1101/gr.219022.116 – ident: 2021111811192503000_29.10.1567.78 doi: 10.1038/nbt.1754 – ident: 2021111811192503000_29.10.1567.93 doi: 10.1038/nmeth.4267 – ident: 2021111811192503000_29.10.1567.39 doi: 10.1101/gr.093153.109 – ident: 2021111811192503000_29.10.1567.81 doi: 10.1101/gr.201814.115 – ident: 2021111811192503000_29.10.1567.41 doi: 10.1101/gr.9.9.868 – ident: 2021111811192503000_29.10.1567.77 doi: 10.1126/science.1186802 – ident: 2021111811192503000_29.10.1567.60 doi: 10.1093/bioinformatics/btp352 – ident: 2021111811192503000_29.10.1567.11 doi: 10.1016/j.tig.2013.04.005 – ident: 2021111811192503000_29.10.1567.45 doi: 10.1038/nature24018 – ident: 2021111811192503000_29.10.1567.20 doi: 10.1016/0168-9525(92)90262-3 – ident: 2021111811192503000_29.10.1567.15 doi: 10.1038/nrg2640 – ident: 2021111811192503000_29.10.1567.24 doi: 10.1038/74184 – ident: 2021111811192503000_29.10.1567.48 doi: 10.1101/gad.1803909 – ident: 2021111811192503000_29.10.1567.12 doi: 10.1016/j.ajhg.2014.07.003 – ident: 2021111811192503000_29.10.1567.64 doi: 10.1038/ng898 – ident: 2021111811192503000_29.10.1567.35 doi: 10.1093/bioinformatics/btu393 – ident: 2021111811192503000_29.10.1567.5 doi: 10.1186/s13100-015-0041-9 – ident: 2021111811192503000_29.10.1567.14 doi: 10.1101/gr.089789.108 – ident: 2021111811192503000_29.10.1567.68 doi: 10.1016/j.ajhg.2017.01.017. – ident: 2021111811192503000_29.10.1567.3 doi: 10.1016/j.ajhg.2015.05.008 – ident: 2021111811192503000_29.10.1567.84 doi: 10.1093/nar/gkm317 – volume: 36 start-page: 836 year: 1984 ident: 2021111811192503000_29.10.1567.62 article-title: Genetic distances between the Utah Mormons and related populations publication-title: Am J Hum Genet – ident: 2021111811192503000_29.10.1567.65 doi: 10.1186/gb-2012-13-6-r45 – ident: 2021111811192503000_29.10.1567.13 doi: 10.1038/s41467-018-08148-z – ident: 2021111811192503000_29.10.1567.57 doi: 10.1038/nmeth.3654 – ident: 2021111811192503000_29.10.1567.86 doi: 10.1093/bib/bbs017 – ident: 2021111811192503000_29.10.1567.4 doi: 10.1134/S0006297909120153 – ident: 2021111811192503000_29.10.1567.95 doi: 10.1101/gr.091827.109 – ident: 2021111811192503000_29.10.1567.23 doi: 10.1126/science.aac7247 – ident: 2021111811192503000_29.10.1567.55 doi: 10.1093/gbe/evv167 – ident: 2021111811192503000_29.10.1567.53 doi: 10.1101/gr.229102. Article published online before print in May 2002 – ident: 2021111811192503000_29.10.1567.82 doi: 10.1146/annurev-genom-031714-125740 – ident: 2021111811192503000_29.10.1567.22 doi: 10.1016/j.ygeno.2005.05.009 – ident: 2021111811192503000_29.10.1567.8 doi: 10.1186/s13059-018-1577-z – ident: 2021111811192503000_29.10.1567.58 doi: 10.1093/bioinformatics/btp324 – ident: 2021111811192503000_29.10.1567.88 doi: 10.1093/hmg/ddm108 – ident: 2021111811192503000_29.10.1567.40 doi: 10.1101/gr.115956.110 – ident: 2021111811192503000_29.10.1567.79 doi: 10.1101/552117 – ident: 2021111811192503000_29.10.1567.10 doi: 10.1038/nrc.2017.35 – ident: 2021111811192503000_29.10.1567.54 doi: 10.1038/nature09525 – ident: 2021111811192503000_29.10.1567.61 doi: 10.1038/nature18964 – ident: 2021111811192503000_29.10.1567.85 doi: 10.1038/ejhg.2011.266 – ident: 2021111811192503000_29.10.1567.34 doi: 10.1186/s13100-016-0070-z – ident: 2021111811192503000_29.10.1567.7 doi: 10.1101/gr.081737.108 – ident: 2021111811192503000_29.10.1567.33 doi: 10.1038/s41576-018-0050-x – ident: 2021111811192503000_29.10.1567.80 doi: 10.1371/journal.pgen.1003242 – ident: 2021111811192503000_29.10.1567.90 doi: 10.1038/s41588-018-0107-y – ident: 2021111811192503000_29.10.1567.92 doi: 10.1073/pnas.1602336113 – ident: 2021111811192503000_29.10.1567.21 doi: 10.1038/ng.806 – ident: 2021111811192503000_29.10.1567.28 doi: 10.1186/s13100-018-0128-1 – ident: 2021111811192503000_29.10.1567.29 doi: 10.1093/bioinformatics/btu314 – ident: 2021111811192503000_29.10.1567.42 doi: 10.1016/j.cell.2010.05.026 – ident: 2021111811192503000_29.10.1567.87 doi: 10.1126/science.1251343 – ident: 2021111811192503000_29.10.1567.49 doi: 10.1038/9638, – ident: 2021111811192503000_29.10.1567.19 doi: 10.1006/mgme.1999.2864 – ident: 2021111811192503000_29.10.1567.32 doi: 10.1101/471375 – ident: 2021111811192503000_29.10.1567.50 doi: 10.1056/NEJMra1510092 – ident: 2021111811192503000_29.10.1567.72 doi: 10.1038/ng.3469 – ident: 2021111811192503000_29.10.1567.2 doi: 10.1101/gr.154625.113 – ident: 2021111811192503000_29.10.1567.66 doi: 10.1073/pnas.1701069114 – ident: 2021111811192503000_29.10.1567.56 doi: 10.1186/s13100-017-0089-9 – ident: 2021111811192503000_29.10.1567.26 doi: 10.1101/gr.106419.110 – ident: 2021111811192503000_29.10.1567.43 doi: 10.1038/nature02168 – ident: 2021111811192503000_29.10.1567.69 doi: 10.1093/nar/gkw925 |
SSID | ssj0003488 |
Score | 2.575313 |
Snippet | Germline mutation rates in humans have been estimated for a variety of mutation types, including single-nucleotide and large structural variants. Here, we... |
SourceID | pubmedcentral proquest crossref pubmed |
SourceType | Open Access Repository Aggregation Database Index Database |
StartPage | 1567 |
SubjectTerms | Alu elements Alu Elements - genetics Animals Births Blood Embryogenesis Female Gametogenesis Genomes Hominidae - blood Hominidae - genetics Humans Interspersed Repetitive Sequences - genetics Long Interspersed Nucleotide Elements - genetics Male Mutation Mutation rates Nucleotide sequence Pedigree Phylogeny Polymorphism, Single Nucleotide - genetics Retroelements - genetics Retrotransposition Statistical analysis Whole Genome Sequencing |
Title | Pedigree-based estimation of human mobile element retrotransposition rates |
URI | https://www.ncbi.nlm.nih.gov/pubmed/31575651 https://www.proquest.com/docview/2306798672 https://search.proquest.com/docview/2300179415 https://pubmed.ncbi.nlm.nih.gov/PMC6771411 |
Volume | 29 |
hasFullText | 1 |
inHoldings | 1 |
isFullTextHit | |
isPrint | |
link | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1NT9wwEB0BUtVeUAv9WEqRK1XcsptJHDs-wqqIUlH1QCVuke04FKmboBAO_HvGdrJi21tvtuzIkWcyM88ZvwH4YkSOVskmQcIKCVcuSwwZyAQbVHXOuRbOHw1c_hDnv_jFdXG9BcV0FyYk7VtzO2__rObt7e-QW3m3sospT2zx83IppESOuNiGbXK_E0QfzW_Oy3j_jVTAk0-tiTVxcdPPMy6VKKjrC_XlSMGKKHDTJ_0TaP6dL_nMAZ29ht0xcmQn8Q3fwJZr92D_pCXUvHpkxyzkcoZD8j14cTq1Xi6nim77cOHrchC-don3XTXzBBvx5iLrGhaq9bFVZ8hOMBezylnvhr4bIgF6zO5inlvi_i1cnX29Wp4nYy2FxPISh8SX16hTJ41uhLXCGq6t1i5TqGtsalNbbWSJqaamSpuycehMIVVWGoI4Kn8HO23Xug_AcsJIRS2k89R7RmlVGIIlZUaho5F1WszgeNrM6i4yZlQBaaRY3fRVFAB1yxkcTltdjR_OfeURkVSlkNkMPq-HaZ_8fwzduu4hzAl2BGmt91Ey65Umkc5AbshsPcHTaW-OkJYFWu1Rqw7--8mP8IrCKRVT_Q5hZ-gf3CcKWQZzRMH6t-9HQVGfAOZL7MY |
link.rule.ids | 230,314,727,780,784,885,27924,27925,53791,53793 |
linkProvider | National Library of Medicine |
linkToHtml | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Nb9QwEB2VIlQuCFqgCy0YCfWW3TjxR3wsq1ZL6VYcFqm3yHacUqmbVGl64N8ztpMVCzdutuzIkT0Zz3Oe3wB8NiKnVsk6oYgVEqZclhh0kAmtqapyxrRw_mhgeSUWP9jFNb_eAT7ehQmkfWtup83detrc_gzcyvu1nY08sdn35VxISRmlsyfwlOdS0RGkDw44Z0W8AYdG4OWnNtKadHbTTTMmleBY9an6corhiuB0e1f6J9T8mzH5xxZ0_hJeDLEjOY3v-Ap2XLMPB6cN4ub1L3JCApszHJPvw7MvY2lvPuZ0O4ALn5kDEbZL_O5VES-xEe8ukrYmIV8fWbcGPQVxkVdOOtd3bR8l0CO_i3h1iYfXsDo_W80XyZBNIbGsoH3iE2xUqZNG18JaYQ3TVmuXKaorWlemstrIgqYaiyqti9pRZ7hUWWEQ5Kj8Dew2beMOgeSIknglpPPie0ZpxQ0CkyLD4NHIKuUTOBkns7yPmhllwBopLW-6Mi4AVosJHI1TXQ6fzkPpMZFUhZDZBD5tmnGe_J8M3bj2MfQJnoTiWG_jymxGGpd0AnJrzTYdvKD2dgvaWRDWHuzq3X8_-RH2FqvlZXn59erbe3iOwZWKxL8j2O27R3eMAUxvPgRz_Q3rZe8i |
linkToPdf | http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV1Nb9QwEB1BER8XBC2FhQJGQr1lEyeOHR_LwqoUWvVQpN4if6VUYpNVmh7494ztZNWFGzdbduTInoznOc9vAD5qXlAjRZNQxAoJky5PNDrIhDZU2oIxxZ0_Gjg948c_2MlleXkn1Vcg7Rt9PW9_rebt9c_ArVyvTDrxxNLz0wUXgjJK07Vt0vvwoCzQyCagPjrhglXxFhwagpeg2shr0vSqn-dMSF5i1afrKyiGLLyk2zvTP-Hm36zJO9vQ8hk8HeNHchTf8zncc-0u7B21iJ1Xv8khCYzOcFS-Cw8_TaXHiymv2x6c-OwciLJd4ncwS7zMRry_SLqGhJx9ZNVp9BbERW456d3Qd0OUQY8cL-IVJm5ewMXyy8XiOBkzKiSGVXRIfJINmzmhVcON4UYzZZRyuaTK0sZqa5QWFc0UFmXWVI2jTpdC5pVGoCOLfdhpu9a9AlIgUiotF84L8GmpZKkRnFQ5BpBa2KycweE0mfU66mbUAW9ktL7q67gAWK1mcDBNdT1-Pje1x0VCVlzkM_iwacZ58n8zVOu629AneBOKY72MK7MZaVrSGYitNdt08KLa2y1oa0Fce7St1__95Ht4dP55WX__evbtDTzB-EpG7t8B7Az9rXuLMcyg3wVr_QNfmvA1 |
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=Pedigree-based+estimation+of+human+mobile+element+retrotransposition+rates&rft.jtitle=Genome+research&rft.au=Feusier%2C+Julie&rft.au=Watkins%2C+W.+Scott&rft.au=Thomas%2C+Jainy&rft.au=Farrell%2C+Andrew&rft.date=2019-10-01&rft.pub=Cold+Spring+Harbor+Laboratory+Press&rft.issn=1088-9051&rft.eissn=1549-5469&rft.volume=29&rft.issue=10&rft.spage=1567&rft.epage=1577&rft_id=info:doi/10.1101%2Fgr.247965.118&rft_id=info%3Apmid%2F31575651&rft.externalDBID=PMC6771411 |
thumbnail_l | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1088-9051&client=summon |
thumbnail_m | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1088-9051&client=summon |
thumbnail_s | http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1088-9051&client=summon |