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

Zehra Ordulu; Kristen E Wong; Benjamin B Currall; Andrew R Ivanov; Shahrin Pereira; Sara Althari; James F Gusella; Michael E Talkowski; Cynthia C Morton

doi:10.1016/j.ajhg.2014.03.020

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

Am J Hum Genet. 2014 May 1;94(5):695-709. doi: 10.1016/j.ajhg.2014.03.020. Epub 2014 Apr 17.

Authors

Zehra Ordulu¹, Kristen E Wong², Benjamin B Currall¹, Andrew R Ivanov², Shahrin Pereira², Sara Althari³, James F Gusella⁴, Michael E Talkowski⁵, Cynthia C Morton⁶

Affiliations

¹ Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.
² Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA.
³ Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA.
⁴ Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
⁵ Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA; Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA.
⁶ Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Harvard Medical School, Boston, MA 02115, USA. Electronic address: cmorton@partners.org.

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.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Chromosome Aberrations / classification*
Cytogenetic Analysis / classification*
DNA Mutational Analysis
Genome, Human / genetics
Humans
Molecular Sequence Data
Sequence Alignment
Software*
Terminology as Topic*

Abstract

Publication types

MeSH terms

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