Article
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.
European journal of human genetics : EJHG - 1 Jan 2025
Schobers Gaby, Pennings Maartje, de Vries Juliette, Kwint Michael, van Reeuwijk Jeroen, Corominas Galbany Jordi, van Beek Ronald, Kamping Eveline, Timmermans Raoul, Kamsteeg Erik-Jan, Haer-Wigman Lonneke, Cremers Frans P M, Roosing Susanne, Gilissen Christian, Kremer Hannie, Brunner Han G, Yntema Helger G, Vissers Lisenka E L M
Abstract excerpt
Clinical exome sequencing (ES) has facilitated genetic diagnosis in individuals with a rare genetic disorder by analysis of all protein-coding sequences in a single experiment. However, in 40-60% of patients, a conclusive diagnosis remains elusive. In 2-5% of these individuals, ES does identify a disease-associated monoallelic variant in a recessive disorder. We hypothesized that short-read genome sequencing (GS)...
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