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Making Sense of the Genome Remains a Work in Progress

Making Sense of the Genome Remains a Work in Progress Opinion EDITORIAL Wylie Burke, MD, PhD DNA sequence information has become increasingly easier and Over the study period, 0.2% of benign or likely benign vari- less expensive to obtain, but interpretation remains a chal- ants were upgraded (to a variants of unknown significance lenge. The vast amount of variation present in the human ge- or to a pathogenic category) and 0.7% of pathogenic or likely pathogenic variants were downgraded (to a variants of nome reveals the scope of the problem. For instance, analysis of all protein-coding regions unknown significance or to a benign category). Among vari- of the genome (an exome ants of unknown significance, 7.7% of unique variants were Related article page 1266 analysis) in 50 726 individu- reclassified (affecting 24.9% of clinical reports, because als found a median of more than 20 000 gene variants per per- many of these variants were observed in ≥1 person). For son, most of them rare and hundreds not previously identified. reclassified variants of unknown significance, 91.2% (1867 Because most genomic variation has little or no observable ef- of 2048) were downgraded to a benign classification, with fect on human health, laboratories must undertake careful the remainder upgraded to a pathogenic http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA American Medical Association

Making Sense of the Genome Remains a Work in Progress

JAMA , Volume 320 (12) – Sep 25, 2018

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References (12)

Publisher
American Medical Association
Copyright
Copyright 2018 American Medical Association. All Rights Reserved.
ISSN
0098-7484
eISSN
1538-3598
DOI
10.1001/jama.2018.11784
pmid
30264098
Publisher site
See Article on Publisher Site

Abstract

Opinion EDITORIAL Wylie Burke, MD, PhD DNA sequence information has become increasingly easier and Over the study period, 0.2% of benign or likely benign vari- less expensive to obtain, but interpretation remains a chal- ants were upgraded (to a variants of unknown significance lenge. The vast amount of variation present in the human ge- or to a pathogenic category) and 0.7% of pathogenic or likely pathogenic variants were downgraded (to a variants of nome reveals the scope of the problem. For instance, analysis of all protein-coding regions unknown significance or to a benign category). Among vari- of the genome (an exome ants of unknown significance, 7.7% of unique variants were Related article page 1266 analysis) in 50 726 individu- reclassified (affecting 24.9% of clinical reports, because als found a median of more than 20 000 gene variants per per- many of these variants were observed in ≥1 person). For son, most of them rare and hundreds not previously identified. reclassified variants of unknown significance, 91.2% (1867 Because most genomic variation has little or no observable ef- of 2048) were downgraded to a benign classification, with fect on human health, laboratories must undertake careful the remainder upgraded to a pathogenic

Journal

JAMAAmerican Medical Association

Published: Sep 25, 2018

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