The variant catalogue pipeline: A workflow to generate a background variant library from Whole Genome Sequences
Solenne Correard, Mohammed OE Abdallah, Brittany Hewitson, Wyeth W. Wasserman
The paper introduces a variant catalogue pipeline to generate high-quality variant libraries from whole genome sequences, applied to 100 human genomes to improve variant cataloguing for diverse populations.
bioRxiv · Oct 3, 2022 · PreprintBioinformatics