Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

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Authors

Yan Sun · BGI Group (China)

Fengxia Liu · BGI Group (China)

Chunna Fan · BGI Group (China)

Yaoshen Wang · BGI Group (China)

Lijie Song · BGI Group (China)

Zhonghai Fang · BGI Group (China)

Rui Han · BGI Group (China)

Abstract

The current standard of a mean depth of 40X may be sufficient for SNV/indel detection and identification of most CNVs. It would be advisable for clinical scientists to determine the range of sensitivity and PPV for different classes of variants for a particular WGS pipeline, which would be useful when interpreting and delivering clinical reports.

Topics & Keywords

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genetic Associations and Epidemiology

Publication Details

Published in: BMC Medical Genomics

Volume 14, Issue 1, pp. 102-102

DOI: 10.1186/s12920-021-00948-5

Field-Weighted Citation Impact: 6.76

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Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders

Authors

Abstract

Topics & Keywords

Publication Details