The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases...
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience
About this item
Full title
Author / Creator
Lawrence, Lauren , Sincan, Murat , Markello, Thomas , Adams, David R. , Gill, Fred , Godfrey, Rena , Golas, Gretchen , Groden, Catherine , Landis, Dennis , Nehrebecky, Michele , Park, Grace , Soldatos, Ariane , Tifft, Cynthia , Toro, Camilo , Wahl, Colleen , Wolfe, Lynne , Gahl, William A. and Boerkoel, Cornelius F.
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose:
Using exome sequence data from 159 families participating in the National Institutes of Health Undiagnosed Diseases Program, we evaluated the number and inheritance mode of reportable incidental sequence variants.
Methods:
Following the American College of Medical Genetics and Genomics recommendations for reporting of incidental f...
Alternative Titles
Full title
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4190001
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4190001
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2014.29
