Article
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Nature communications - 10 Jun 2023
Oddsson Asmundur, Sulem Patrick, Sveinbjornsson Gardar, Arnadottir Gudny A, Steinthorsdottir Valgerdur, Halldorsson Gisli H, Atlason Bjarni A, Oskarsson Gudjon R, Helgason Hannes, Nielsen Henriette Svarre, Westergaard David, Karjalainen Juha M, Katrinardottir Hildigunnur, Fridriksdottir Run, Jensson Brynjar O, Tragante Vinicius, Ferkingstad Egil, Jonsson Hakon, Gudjonsson Sigurjon A, Beyter Doruk, Moore Kristjan H S, Thordardottir Helga B, Kristmundsdottir Snaedis, Stefansson Olafur A, Rantapää-Dahlqvist Solbritt, Sonderby Ida Elken, Didriksen Maria, Stridh Pernilla, Haavik Jan, Tryggvadottir Laufey, Frei Oleksandr, Walters G Bragi, Kockum Ingrid, Hjalgrim Henrik, Olafsdottir Thorunn A, Selbaek Geir, Nyegaard Mette, Erikstrup Christian, Brodersen Thorsten, Saevarsdottir Saedis, Olsson Tomas, Nielsen Kaspar Rene, Haraldsson Asgeir, Bruun Mie Topholm, Hansen Thomas Folkmann, Steingrimsdottir Thora, Jacobsen Rikke Louise, Lie Rolv T, Djurovic Srdjan, Alfredsson Lars, Lopez de Lapuente Portilla Aitzkoa, Brunak Soren, Melsted Pall, Halldorsson Bjarni V, Saemundsdottir Jona, Magnusson Olafur Th, Padyukov Leonid, Banasik Karina, Rafnar Thorunn, Askling Johan, Klareskog Lars, Pedersen Ole Birger, Masson Gisli, Havdahl Alexandra, Nilsson Bjorn, Andreassen Ole A, Daly Mark, Ostrowski Sisse Rye, Jonsdottir Ingileif, Stefansson Hreinn, Holm Hilma, Helgason Agnar, Thorsteinsdottir Unnur, Stefansson Kari, Gudbjartsson Daniel F
Abstract excerpt
Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among 1.52 million individuals from six European populations. In this study, we identified 25 genes harboring protein-altering sequence variants with a strong deficit of...
Read the complete abstract on PubMed