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Paper Details

Mono- and biallelic variant effects on disease at biobank scale.
Nature
21
2023
370 coding variants, Mendelian and common diseases, Mendelian variants, cataract, female infertility, homozygous variants, retinal dystrophy
Author NameAffiliation
Konrad J KarczewskiFinnish Institute for Molecular Medicine (FIMM), University of Helsinki
Konrad J KarczewskiCenter for Genomic Medicine, Massachusetts General Hospital
Konrad J KarczewskiMassachusetts General Hospital
Konrad J KarczewskiStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard
Konrad J KarczewskiBroad Institute of MIT and Harvard
Konrad J KarczewskiFinnish Institute for Molecular Medicine (FIMM), University of Helsinki
Konrad J KarczewskiBroad Institute of MIT and Harvard
Konrad J KarczewskiStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard
Konrad J KarczewskiMassachusetts General Hospital
Konrad J KarczewskiCenter for Genomic Medicine, Massachusetts General Hospital
Aki S HavulinnaFinnish Institute for Molecular Medicine (FIMM), University of Helsinki
Aki S HavulinnaFinnish Institute for Health and Welfare
Mitja I KurkiFinnish Institute for Molecular Medicine (FIMM), University of Helsinki
Mitja I KurkiCenter for Genomic Medicine, Massachusetts General Hospital
Mitja I KurkiMassachusetts General Hospital
Mitja I KurkiStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard
Mitja I KurkiBroad Institute of MIT and Harvard
Heidi L RehmBroad Institute of MIT and Harvard
Heidi L RehmCenter for Genomic Medicine, Massachusetts General Hospital
Heidi L RehmMassachusetts General Hospital
Heidi L RehmBroad Institute of MIT and Harvard
Heidi L RehmMassachusetts General Hospital
Heidi L RehmCenter for Genomic Medicine, Massachusetts General Hospital
Mark J DalyFinnish Institute for Molecular Medicine (FIMM), University of Helsinki
Mark J DalyBroad Institute of MIT and Harvard
Mark J DalyStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard
Mark J DalyMassachusetts General Hospital
Mark J DalyCenter for Genomic Medicine, Massachusetts General Hospital
Mark J DalyFinnish Institute for Molecular Medicine (FIMM), University of Helsinki
Mark J DalyBroad Institute of MIT and Harvard
Mark J DalyStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard
Mark J DalyMassachusetts General Hospital
Mark J DalyCenter for Genomic Medicine, Massachusetts General Hospital
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