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Comprehensive variant discovery in the era of complete human reference genomes

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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Fig. 1: Genomic variants and schematics of their location on the chromosome.


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K.H.M. and M.C. are supported by NIH/NHGRI U01HG010971.

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Correspondence to Karen H. Miga.

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K.H.M. is a science advisory board member of Centaura, Inc. and has received travel funds to speak at events hosted by Oxford Nanopore Technologies.

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Cechova, M., Miga, K.H. Comprehensive variant discovery in the era of complete human reference genomes. Nat Methods 20, 17–19 (2023).

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