Article

The variant catalogue pipeline: A workflow to generate a background variant library from Whole Genome Sequences

2022-10-05

Abstract excerpt

<h4>ABSTRACT</h4> Today, several projects are working toward reducing inequities and improving health care for individuals affected with rare genetic diseases from diverse populations. One route to reduce inequities is to generate variant catalogues for diverse populations. To that end, we developed the variant catalogue pipeline, an open-source pipeline implemented in the Nextflow framework. The variant catalogu...

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Literature Corpus work: 6f6419e9-31fd-51af-a3b1-8cbb5054ecd7
DOI: 10.1101/2022.10.03.508010

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