Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

Despite the potential of whole-genome sequencing (WGS) to improve patient diagnosis and care, the empirical value of WGS in the cancer genetics clinic is unknown. We performed WGS on members of two cohorts of cancer genetics patients: those with BRCA1/2 mutations (n = 176) and those without (n = 82)...

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Bibliographic Details
Main Authors: Samantha B. Foley, Jonathan J. Rios, Victoria E. Mgbemena, Linda S. Robinson, Heather L. Hampel, Amanda E. Toland, Leslie Durham, Theodora S. Ross
Format: Article
Language:English
Published: Elsevier 2015-01-01
Series:EBioMedicine
Subjects:
Cancer genetics
BRCA1/2
Whole-genome sequence
ClinVar
Pathogenic variants
Single nucleotide variant
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396414000498

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http://www.sciencedirect.com/science/article/pii/S2352396414000498

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