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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4496331

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

About this item

Full title

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

Publisher

New York: Nature Publishing Group US

Journal title

Genetics in medicine, 2015-10, Vol.17 (10), p.782-788

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

Contents

Purpose:
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...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4496331

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4496331

Other Identifiers

ISSN

1098-3600,1530-0366

E-ISSN

1530-0366

DOI

10.1038/gim.2014.196

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