The Genomics and Genetics of Rare Disease Illuminate Human Biology
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.
Fields of Study & Subjects
Genomics and Rare Diseases
Genomic variations and chromosomal abnormalities
Genome Rearrangement Algorithms
Publication details
- Journal / source
- Annual Review of Genomics and Human Genetics
- Volume
- 27
- Issue
- 1
- Pages
- 21–42
- Publication date
- 4 March 2026
- Language
- EN