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HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders2026 European Journal of Human Genetics article Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Carolina Jaramillo Oquendo, Federico Ferraro, Htoo A. Wai, Heather Ferrao, Herma van der Linde, Evita Karelioti, +11 more
6citations -
Design and performance of a long-read sequencing panel for pharmacogenomics2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Pharmacology, Toxicology and Pharmaceutics Pharmacogenetics and Drug Metabolism Open access
Maaike van der Lee, Loes Busscher, Roberta Menafra, Qinglian Zhai, Redmar R. van den Berg, Sarah B. Kingan, +6 more
2citations -
Resolution of the D4Z4 repeat responsible for facioscapulohumeral muscular dystrophy with HiFi sequencing2026 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Rare Diseases Open access
Xiao Chen, Richard J.L.F. Lemmers, Zev N. Kronenberg, Joseph M. Devaney, Jessica Noya, April S. Berlyoung, +7 more
0citations -
Haplotype-resolved assemblies and variant benchmark of a Chinese Quartet2022 bioRxiv (Cold Spring Harbor Laboratory) preprint Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Peng Jia, Lianhua Dong, Xiaofei Yang, Bo Wang, Tingjie Wang, Jiadong Lin, +15 more
6citations -
Chromosome-Level Genome Assembly of the Cape Cliff Lizard (Hemicordylus capensis)2023 Genome Biology and Evolution article Biochemistry, Genetics and Molecular Biology Genomics and Phylogenetic Studies Open access
Henrique G. Leitão, Genevieve Diedericks, Chris Broeckhoven, Simon Baeckens, Hannes Svardal
7citations
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