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High prevalence of cancer‐associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering

5 Feb 2019

Abstract excerpt

The 1,000 genome project, the Exome Aggregation Consortium (ExAC) or the Genome Aggregation database (gnomAD) datasets, were developed to provide large-scale reference data of genetic variations for various populations to filter out common benign variants and identify rare variants of clinical importance based on their frequency in the human population. Using a TP53 repository of 80,000 cancer variants, as well...

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PMID: 30720243
DOI: 10.1002/humu.23717

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