Article

Cleaning clinical genomic data: Simple identification and removal of recurrently miscalled variants in single genomes

2017-12-20

Abstract excerpt

Identification of sequence variation from short-read sequence data is subject to common-yet-intermittent miscalling that occurs in a sequence intrinsic manner. We identify that recurrent false positive single nucleotide variants are strongly present in databases of human sequence variation and demonstrate how each individual sample generates a unique set of recurrent false positive variants. These recurrent miscal...

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Literature Corpus work: c6f06ffd-a221-5c6b-9200-962bcaa01d15
DOI: 10.1101/237107

Open publication

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