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Amber den Ouden

As seen in: The American Journal of Human Genetics
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Articles

HiFi long-read genomes for difficult-to-detect, clinically relevant variants

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By Wolfram Höps, Marjan M. Weiss, Ronny Derks, Jordi Galbany, Amber den Ouden, Raoul Timmermans, Jos P.H. Smits, Tom Mokveld, Egor Dolzhenko, Xiao Chen, Michael A. Eberle, Helger G. Yntema, Alexander Hoischen, Christian Gilissen, Lisenka E.L.M. Vissers
| The American Journal of Human Genetics Verified
Keywords long-read sequencing clinical utility omics genomics rare disease diagnostics challenging variants short-read sequencing Get full text access Log in, subscribe or purchase for full access. References 1. Nguengang Wakap, S. ∙ Lambert, D.M. ∙ Olry, A. ... Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database Eur. J. Hum. Genet. 2020; 28:165-173 2. Wojcik, M.H. ∙ Lemire, G. ∙ Berger, E. ... Genome Sequencing for Diagnosing Rare Diseases N. Engl. J. Med.
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