The Genomics and Genetics of Rare Disease Illuminate Human Biology.

James R Lupski; Richard A Gibbs

doi:10.1146/annurev-genom-020525-014546

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The Genomics and Genetics of Rare Disease Illuminate Human Biology.

James R Lupski·Richard A Gibbs

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Abstract

Richard Gibbs interviews James (Jim) Lupski about his training in New York and work in Houston to elucidate the role of complex genomic rearrangements in human genetic diseases. The challenges and excitement of developing human personalized genomics and the advantages of clinical translation of genome methods for both patients and researchers are discussed.

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Humans Genome, Human Genomics History, 20th Century History, 21st Century Rare Diseases Charcot–Marie–Tooth syndrome autobiography clinical translation of genomics genome rearrangements whole-genome sequencing work–life balance Historical Article Interview

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James R Lupski, Richard A Gibbs. 2026-03-04. The Genomics and Genetics of Rare Disease Illuminate Human Biology.. https://doi.org/10.1146/annurev-genom-020525-014546

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