The Genomics and Genetics of Rare Disease Illuminate Human Biology
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.
Authors
- Richard A. Gibbs
- James R. Lupski
Institutions
- Baylor College of Medicine (US)
- Texas Children's Hospital (US)
- Baylor Genetics (US)
Publication Details
- Journal
- Annual Review of Genomics and Human Genetics
- Published
- 2026-03-04
- DOI
- https://doi.org/10.1146/annurev-genom-020525-014546
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00