Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions

The American Journal of Human Genetics 2026 Open access

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Authors: Yong-Han Hank Cheng, Adriana E. Sedeño-Cortés, Jane Ranchalis, Katherine M. Munson, Mitchell R. Vollger, Elsa Balton, Casie A. Genetti, Jenny L. Wilson, Monica H. Wojcik, Alan H. Beggs, Michael J. Bamshad, Chia‐Lin Wei
+10 more Katrina M. Dipple, Runjun D. Kumar, Mark D. Fleming, Ian A. Glass, Elizabeth E. Blue, Gail Jarvik, Jessica X. Chong, Daniela Witten, Anne O’Donnell‐Luria, Andrew B. Stergachis
DOI: 10.1016/j.ajhg.2026.08.002
Cited by: 3
References: 31

Fields of Study & Subjects

Genomics and Rare Diseases Genetic Associations and Epidemiology Hereditary Neurological Disorders

Publication details

Journal / source
The American Journal of Human Genetics
Publisher
Elsevier BV
Volume
113
Issue
9
Pages
1812–1831
Publication date
25 August 2026
Language
EN