Clinical OMICs - Issue 3 - (Page 12)
Bringing Informed Interpretation
to Vexing Variants
Alex Philippidis
W
hile the first traffic light flashed 18 years before the first car
was built, the rules of the road have long lagged behind technology where genetic testing is concerned, especially in distinguishing functional gene variants from those that cause disease.
That is starting to change as groups of researchers and clinicians hammer out
guidelines for statistically rigorous and evidence-based clinical interpretation
of variants found through next-generation sequencing.
On April 23, a working group of 27 experts in genomic research, analysis,
and clinical diagnostic sequencing convened in a 2012 workshop by the NIH's
National Human Genome Research Institute (NHGRI) published an open-access
paper in Nature presenting its proposed guidelines for evaluating evidence
supporting variant causality.
Daniel MacArthur, Ph.D., of Massachusetts General Hospital and Chris Gunter,
Ph.D., of Marcus Autism Center and Emory University, led the working group in
drawing up guidelines that cover evidence assessment for candidate disease
genes and candidate pathogenic variants, as well as standards for reporting,
publishing, and even sharing data.
The group listed priorities for research and infrastrucALEX PHILIPPIDIS
ture development: Developing standardized, quantitaspecializes in biopharma business news
tive statistical approaches for assigning probability of
and industry issues. Alex joined GEN in
causation; large-scale genotyping of reported disease2011 after four years at GenomeWeb,
where he covered research institutes and
causing variants; building public databases of those
biotech economic development topics.
variants, with up-to-date supporting evidence, plus
Previously, Alex worked more than 20 years
variant and allele frequency data from large, diverse
for various newspapers covering business, science, and
population samples; and greater sharing of data by
general news topics. He has been interviewed and quoted
research and clinical labs.
by news outlets that include The New York Times and the
"We have seen so many more large cohorts and huge
BBC. (aphilippidis@liebertpub.com)
amounts of sequence generated, and we have seen
things go wrong as well as right over time," Dr. Gunter
told GEN. "Much more is needed on both the research and infrastructure fronts
to stringently assign causality to sequence variants."
12
Clinical OMICs May 15, 2014
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Table of Contents for the Digital Edition of Clinical OMICs - Issue 3
Contents
Clinical OMICs - Issue 3
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol3iss9
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol3iss8
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol3iss7
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol3iss6
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol3iss5
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol3iss4
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol3iss3
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol3iss2
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol3iss1
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol2iss12
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol2iss11
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol2iss10
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol2iss9
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol2iss8
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol2iss7
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol2iss6
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol2iss5
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol2iss4
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol2iss3
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol2iss2
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_vol2iss1
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue15
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue14
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue13
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue12
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue11
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue10
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue9
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue8
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue7
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue6
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue5
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue4
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue3
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue2
https://www.nxtbook.com/nxtbooks/gen/clinical_omics_issue1
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