O20: Benchmarking comprehensive variant detection in challenging genomic regions using Constellation mapped read technology

Genetics in Medicine Open 2026 Open access

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Authors: Flavia M. Facio, Britt A. Johnson, Kathleen S. Hruska, Drew Ellershaw, Vitor Onuchic, Shunhua Han, Qing Xin Zhang, Andrea Finocchio, Pascal Grobecker, Jacqui Weir, Ali Crawford, Keith Nykamp
+1 more Joseph M. Devaney
DOI: 10.1016/j.gimo.2026.104307
Cited by: 0

Fields of Study & Subjects

Glycogen Storage Diseases and Myoclonus Genomics and Rare Diseases Genomics and Phylogenetic Studies

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104307–104307
Publication date
1 January 2026
Language
EN