P566: Multi-omics resolution of a complex germline chromothripsis-like translocation event in an undiagnosed rare disease case using telomere-to-telomere assembly*

Genetics in Medicine Open 2026 Open access

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Authors: Emma Mizrahi-Powell, Rebecca Stubbs, Priyesh Rughani, Carly Tyer, Bryan A. Leland, Sean K. McKenzie, Scott F. Hickey, Sissel Juul, Gilad D. Evrony
DOI: 10.1016/j.gimo.2026.104057
Cited by: 0

Fields of Study & Subjects

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Genomics and Phylogenetic Studies

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104057–104057
Publication date
1 January 2026
Language
EN