Reposted by Gudny ArnadottirNature @nature.com · 23/05/2025Nature research paper: Sequence diversity lost in early pregnancy go.nature.com/4dDftAvgo.nature.comSequence diversity lost in early pregnancy - NatureAround 1 in 136 pregnancies is lost due to a pathogenic small sequence variant genotype in the fetus. 0197
Reposted by Gudny ArnadottirÁsmundur Oddsson (Ási) @asmundurhreinn.bsky.social · 22/05/2025🔬 Out now in @nature.com is a study from decode genetics in collaboration with the danish The COPL Consortium lead by @gudny3.bsky.social and @hakonjon.bsky.social 172
Gudny Arnadottir @gudny3.bsky.social · 21/05/2025Overall we estimate that at least 1 in 136 pregnancies are lost due to small sequence variants in the fetal genome (5/5) 010
Gudny Arnadottir @gudny3.bsky.social · 21/05/2025We also found genotypes with a deficit of homozygous carriers in adults, that presented in biallelic state in some of the fetuses (4/5) 120
Gudny Arnadottir @gudny3.bsky.social · 21/05/2025We were also able to pinpoint the origin of some of the mutations, in the development of the fetus or the maternal germline (3/5) 110
Gudny Arnadottir @gudny3.bsky.social · 21/05/2025However, we found that the main difference between the fetal genomes and adult genomes was that the mutations in the fetuses occurred in essential genomic sequences (2/5) 110
Gudny Arnadottir @gudny3.bsky.social · 21/05/2025By comparing genomes of fetuses from pregnancy losses to adult genomes, we actually found a similar number of de novo mutations in the two groups (1/5) 110
Gudny Arnadottir @gudny3.bsky.social · 21/05/2025Nature podcast is covering our study on pregnancy loss @hakonjon.bsky.social 020
Reposted by Gudny ArnadottirNature Podcast @naturepodcast.bsky.social · 21/05/2025This week on the pod 🔊 🦟 Treating mosquitoes for malaria 🧬 The genetics that can lead to pregnancy loss go.nature.com/4dLLUgpgo.nature.comThese malaria drugs treat the mosquitoes — not the peopleHear the biggest stories from the world of science | 21 May 2025 0128
Gudny Arnadottir @gudny3.bsky.social · 21/05/2025Our paper @hakonjon.bsky.social (missing other colleagues from Bluesky!), Sequence diversity lost in early pregnancy, was published in Nature (@nature.com) today www.nature.com/articles/s41...nature.comSequence diversity lost in early pregnancy - NatureAround 1 in 136 pregnancies is lost due to a pathogenic small sequence variant genotype in the fetus. 1166
Reposted by Gudny ArnadottirBjarni V. Halldórsson @bvhalldorsson.bsky.social · 22/01/2025Complete human recombination maps www.nature.com/articles/s41... - continuation of 25 yeas of work in building recominbation maps.nature.com 1109