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...

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Published inAmerican journal of human genetics Vol. 94; no. 5; pp. 695 - 709
Main Authors Ordulu, Zehra, Wong, Kristen E., Currall, Benjamin B., Ivanov, Andrew R., Pereira, Shahrin, Althari, Sara, Gusella, James F., Talkowski, Michael E., Morton, Cynthia C.
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.05.2014
Cell Press
Elsevier
Subjects
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
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Summary: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.
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ISSN:0002-9297
1537-6605
1537-6605
DOI:10.1016/j.ajhg.2014.03.020