Article
Personalized pangenome references.
Nature methods - 1 Nov 2024
Sirén Jouni, Eskandar Parsa, Ungaro Matteo Tommaso, Hickey Glenn, Eizenga Jordan M, Novak Adam M, Chang Xian, Chang Pi-Chuan, Kolmogorov Mikhail, Carroll Andrew, Monlong Jean, Paten Benedict
Abstract excerpt
Pangenomes reduce reference bias by representing genetic diversity better than a single reference sequence. Yet when comparing a sample to a pangenome, variants in the pangenome that are not part of the sample can be misleading, for example, causing false read mappings. These irrelevant variants are generally rarer in terms of allele frequency, and have previously been dealt with by filtering rare variants....
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