Article
Exome variant discrepancies due to reference-genome differences.
American journal of human genetics - 1 Jul 2021
Li He, Dawood Moez, Khayat Michael M, Farek Jesse R, Jhangiani Shalini N, Khan Ziad M, Mitani Tadahiro, Coban-Akdemir Zeynep, Lupski James R, Venner Eric, Posey Jennifer E, Sabo Aniko, Gibbs Richard A
Abstract excerpt
Despite release of the GRCh38 human reference genome more than seven years ago, GRCh37 remains more widely used by most research and clinical laboratories. To date, no study has quantified the impact of utilizing different reference assemblies for the identification of variants associated with rare and common diseases from large-scale exome-sequencing data. By calling variants on both the GRCh37 and GRCh38...
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