Article

Variant calling pipelines for whole exome sequencing in clinical context

2024-10-19

Abstract excerpt

<h4>Introduction: </h4> Whole exome sequencing (WES) has become a more accessible diagnostic tool in clinical genetic context, leading to the debate of the most accurate and effective bioinformatic pipeline solutions to evaluate variants that explain diseases. Objective This study aimed to evaluate twenty-four pipelines in two samples comparing accuracy, time and computing efficiency. We also contrasted the result...

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Literature Corpus work: b57bf096-06e5-571b-910e-c72042a0c010
DOI: 10.1101/2024.10.18.24315708

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