Article

A comparative study of structural variant calling strategies using the Alzheimer’s Disease Sequencing Project’s whole genome family data

2022-05-20

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Reliable detection and accurate genotyping of structural variants (SVs) and insertion/deletions (indels) from whole-genome sequence (WGS) data is a significant challenge. We present a protocol for variant calling, quality control, call merging, sensitivity analysis, in silico genotyping, and laboratory validation protocols for generating a high-quality deletion call set fro...

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Literature Corpus work: bee4fcea-43fd-5daa-a234-ab260ac54956
DOI: 10.1101/2022.05.19.492472

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