Comprehensive variant discovery in the era of complete human reference genomes.

Nat Methods

Department of Biomolecular Engineering, University of California Santa Cruz, Santa Cruz, CA, USA.

Published: January 2023


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Article Abstract

Advances in long-read sequencing technologies have broadened our understanding of genetic variation in the human population, uncovered new complex structural variants and offered an opportunity to elucidate new variant associations with disease.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506630PMC
http://dx.doi.org/10.1038/s41592-022-01740-8DOI Listing

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