Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics | Zendy

Julie A. Jurgens | Zendy; Hua Ling | Zendy; Kurt N. Hetrick | Zendy; Elizabeth Pugh | Zendy; François Schiettecatte | Zendy; Kimberly F. Doheny | Zendy; Ada Hamosh | Zendy; Dimitri Avramopoulos | Zendy; David Valle | Zendy; Nara Sobreira | Zendy

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Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics

Author(s) -

Julie A. Jurgens,

Hua Ling,

Kurt N. Hetrick,

Elizabeth Pugh,

François Schiettecatte,

Kimberly F. Doheny,

Ada Hamosh,

Dimitri Avramopoulos,

David Valle,

Nara Sobreira

Publication year - 2015

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2014.196

Subject(s) - nonsynonymous substitution , exome sequencing , genetics , exome , missense mutation , genomics , gene , mutation , biology , mendelian inheritance , medical genetics , functional genomics , computational biology , genome

In March 2013 the American College of Medical Genetics and Genomics published a list of 56 genes with the recommendation that pathogenic and likely pathogenic variants detected incidentally by clinical sequencing be reported to patients. As an initial step in determining the practical consequences of this recommendation in the research setting, we searched for variants in these genes in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.

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