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Variant calling pipelines for whole exome sequencing in clinical context
2024-10-19
genetic and genomic medicine
Title + abstract only
View on medRxiv
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1IntroductionWhole 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. ObjectiveThis study aimed to evaluate twenty-four pipelines in two samples comparing accuracy, time and computing efficiency. We also contrasted the results based on regions in two of the most common capture kits. Materials and methodsWe used two a...
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