Mitigating False-Positive Associations in Rare Disease Gene Discovery

Author:

Akle Sebastian12,Chun Sung23,Jordan Daniel M.23,Cassa Christopher A.23

Affiliation:

1. Department of Organismic and Evolutionary Biology; Harvard University; Boston MA

2. Division of Genetics; Brigham and Women's Hospital; Boston MA

3. Department of Medicine; Harvard Medical School; Boston MA

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

1. An informatics approach to analyzing the incidentalome;Berg;Genet Med,2013

2. An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge;Brownstein;Genome Biol,2014

3. Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals;Cassa;Hum Mutat,2013

4. Whole-genome sequence variation, population structure and demographic history of the Dutch population;Collection;Nat Genet,2014

5. Exome Aggregation Consortium (ExAC) 2014 http://exac.broadinstitute.org

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