Personalized pangenome references-Reference-Cited by-同舟云学术

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Personalized pangenome references

Published:2024-09-11 Issue: Volume: Page:
ISSN:1548-7091
Container-title:Nature Methods
language:en
Short-container-title:Nat Methods

Author:

Sirén Jouni^ORCID,Eskandar Parsa^ORCID,Ungaro Matteo Tommaso^ORCID,Hickey Glenn,Eizenga Jordan M.,Novak Adam M.,Chang Xian^ORCID,Chang Pi-Chuan^ORCID,Kolmogorov Mikhail,Carroll Andrew^ORCID,Monlong Jean^ORCID,Paten Benedict^ORCID

Funder

U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute

U.S. Department of Health & Human Services | National Institutes of Health

U.S. Department of Health & Human Services | NIH | National Heart, Lung, and Blood Institute

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/s41592-024-02407-2.pdf

Reference42 articles.

1. Eizenga, J. M. et al. Pangenome graphs. Ann. Rev. Genomics Hum. Genet. 24, 139–162 (2020).

2. Garrison, E. et al. Variation graph toolkit improves read mapping by representing genetic variation in the reference. Nat. Biotechnol. 36, 875–879 (2018).

3. Rautiainen, M. & Marschall, T. GraphAligner: rapid and versatile sequence-to-graph alignment. Genome Biol. 21, 253 (2020).

4. Sirén, J. et al. Pangenomics enables genotyping of known structural variants in 5202 diverse genomes. Science 374, abg8871 (2021).

5. The 1000 Genomes Project Consortium. A global reference for human genetic variation. Nature 526, 68–64 (2015).

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