Article

Rapid and accurate genotype imputation from low coverage short read, long read, and cell free DNA sequence

2024-07-22

Abstract excerpt

Inexpensive and accurate genotyping methods are essential to modern genomics and health risk prediction. Here we introduce QUILT2, a scalable read-aware imputation method that can efficiently use biobank scale haplotype reference panels. This allows for fast and accurate imputation using short reads, as well as long reads (e.g. ONT 1X r2 = 0.937 at common SNPs), linked-reads and ancient DNA. In addition, QUILT2 co...

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Literature Corpus work: c4cbfa97-127a-530d-ae65-1a7412fa112e
DOI: 10.1101/2024.07.18.604149

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