Concepedia

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

Samantha B. Foley, Jonathan J. Rios, Victoria Mgbemena, Linda S. Robinson, Heather L. Hampel, Amanda E. Toland, L. Kathryn Durham, Theodora S. Ross

EBioMedicine · 2014 · 55 citations · 25 references

DOIFull text

Open access

Concepts

Abstract

mutations and led to cancer risk diagnoses in 21% of non-BRCA cancer genetics patients after expanding our analysis to 3209 ClinVar genes. These data illustrate how WGS can be used to improve our ability to discover patients' cancer genetic risks.

References

25

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

, , +15

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

Robert C. Green, Jonathan S. Berg, Wayne W. Grody et al. · Genetics in Medicine · 2013 · 2.5K citations · Full text

, , +16

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

Radoje Drmanac, Andrew B. Sparks, Matthew J. Callow et al. · Science · 2009 · 1.2K citations

, , +13

Genome sequencing identifies major causes of severe intellectual disability

Christian Gilissen, Jayne Y. Hehir‐Kwa, Djie Tjwan Thung et al. · Nature · 2014 · 1.1K citations · Full text

, , +14

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

Elizabeth A. Worthey, Alan N. Mayer, Grant Syverson et al. · Genetics in Medicine · 2010 · 710 citations · Full text

, , +17