Article
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Nature communications - 4 Feb 2022
Arnadottir Gudny A, Oddsson Asmundur, Jensson Brynjar O, Gisladottir Svanborg, Simon Mariella T, Arnthorsson Asgeir O, Katrinardottir Hildigunnur, Fridriksdottir Run, Ivarsdottir Erna V, Jonasdottir Adalbjorg, Jonasdottir Aslaug, Barrick Rebekah, Saemundsdottir Jona, le Roux Louise, Oskarsson Gudjon R, Asmundsson Jurate, Steffensen Thora, Gudmundsson Kjartan R, Ludvigsson Petur, Jonsson Jon J, Masson Gisli, Jonsdottir Ingileif, Holm Hilma, Jonasson Jon G, Magnusson Olafur Th, Thorarensen Olafur, Abdenur Jose, Norddahl Gudmundur L, Gudbjartsson Daniel F, Bjornsson Hans T, Thorsteinsdottir Unnur, Sulem Patrick, Stefansson Kari
Abstract excerpt
Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes. We follow three missense variants with a complete deficit of homozygosity and find that their pathogenic effect in homozygous state ranges...
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