Article

A bioinformatic panel to interrogate thousands of ExAC variants with minor reference allele that are missed by conventional variant calling

2016-12-12

Abstract excerpt

In variation sites with minor reference alleles, overlooking the detection of homozygous reference genotypes results in inadequate identification of potential disease variants. Current variant calling practices miss these clinically relevant alleles warranting new approaches. More than 26,000 Eome Aggregation Consortium (ExAC) variants have a minor reference allele including 44 variants with known ClinVar disease...

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Literature Corpus work: b48be177-998d-57ca-a291-0a574560a3e4
DOI: 10.1101/093450

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