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Am J Hum Genet DOI:10.1016/j.ajhg.2014.03.020

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.

Publication TypeJournal Article
Year of Publication2014
AuthorsOrdulu, Z, Wong, KE, Currall, BB, Ivanov, AR, Pereira, S, Althari, S, Gusella, JF, Talkowski, ME, Morton, CC
JournalAm J Hum Genet
Volume94
Issue5
Pages695-709
Date Published2014 May 01
ISSN1537-6605
KeywordsBase Sequence, Chromosome Aberrations, Cytogenetic Analysis, DNA Mutational Analysis, Genome, Human, Humans, Molecular Sequence Data, Sequence Alignment, Software, Terminology as Topic
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.

URLhttp://linkinghub.elsevier.com/retrieve/pii/S0002-9297(14)00172-4
DOI10.1016/j.ajhg.2014.03.020
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/24746958?dopt=Abstract

Alternate JournalAm. J. Hum. Genet.
PubMed ID24746958
PubMed Central IDPMC4067557
Grant ListHD065286 / HD / NICHD NIH HHS / United States
MH087123 / MH / NIMH NIH HHS / United States
R00 MH095867 / MH / NIMH NIH HHS / United States
GM061354 / GM / NIGMS NIH HHS / United States
K99 MH095867 / MH / NIMH NIH HHS / United States
HD060530 / HD / NICHD NIH HHS / United States
P01 GM061354 / GM / NIGMS NIH HHS / United States
R01 HD060530 / HD / NICHD NIH HHS / United States
R21 HD065286 / HD / NICHD NIH HHS / United States
F32 DC012466 / DC / NIDCD NIH HHS / United States
MH095867 / MH / NIMH NIH HHS / United States
T32 GM007748 / GM / NIGMS NIH HHS / United States
F32 MH087123 / MH / NIMH NIH HHS / United States