Article

Enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

2019-07-23

Abstract excerpt

Whole-exome sequencing (WES) enrichment platforms are usually evaluated by measuring the depth of coverage at target regions. However, variants called in WES are reported in the variant call format (VCF) file, which is filtered by minimum site coverage and mapping quality. Therefore, genotypability (base calling calculated by combining depth of coverage with the confidence of read alignment) should be considered a...

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Literature Corpus work: 876a45d4-d392-55f0-8f16-dc8292b5b826
DOI: 10.1101/712125

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