GenomicsBMC Medical GenomicsPeer-reviewed
Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders
Yan Sun, Fengxia Liu, Chunna Fan…·Zhiyu Peng
This study evaluates the sensitivity and coverage of clinical whole-genome sequencing (WGS) for detecting genetic variants, finding that 40X mean depth achieves high sensitivity for SNVs and indels but not 100%.
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