Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
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Author / Creator
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 and Stefansson, Kari
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
Authors, Artists and Contributors
Author / Creator
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
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_b8f84ef077ff486aaff6925f0ff44160
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_b8f84ef077ff486aaff6925f0ff44160
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-022-28330-8
