Article
Pangenomics enables genotyping of known structural variants in 5202 diverse genomes.
Science (New York, N.Y.) - 17 Dec 2021
Sirén Jouni, Monlong Jean, Chang Xian, Novak Adam M, Eizenga Jordan M, Markello Charles, Sibbesen Jonas A, Hickey Glenn, Chang Pi-Chuan, Carroll Andrew, Gupta Namrata, Gabriel Stacey, Blackwell Thomas W, Ratan Aakrosh, Taylor Kent D, Rich Stephen S, Rotter Jerome I, Haussler David, Garrison Erik, Paten Benedict
Abstract excerpt
We introduce Giraffe, a pangenome short-read mapper that can efficiently map to a collection of haplotypes threaded through a sequence graph. Giraffe maps sequencing reads to thousands of human genomes at a speed comparable to that of standard methods mapping to a single reference genome. The increased mapping accuracy enables downstream improvements in genome-wide genotyping pipelines for both small variants and...
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