Article
Considerations for using population frequency data in germline variant interpretation: Cancer syndrome genes as a model.
Human mutation - 1 May 2021
Davidson Aimee L, Leonard Conrad, Koufariotis Lambros T, Parsons Michael T, Hollway Georgina E, Pearson John V, Newell Felicity, Waddell Nicola, Spurdle Amanda B
Abstract excerpt
Aggregate population genomics data from large cohorts are vital for assessing germline variant pathogenicity. However, there are no specifications on how sequencing quality metrics should be considered, and whether exome-derived and genome-derived allele frequencies should be considered in isolation. Germline genome sequence data were simulated for nine read-depths to identify a minimum acceptable read-depth for...
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