Nature research paper: Sequence diversity lost in early pregnancy

https://go.nature.com/4dDftAv

🔬 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

Overall we estimate that at least 1 in 136 pregnancies are lost due to small sequence variants in the fetal genome (5/5)

We also found genotypes with a deficit of homozygous carriers in adults, that presented in biallelic state in some of the fetuses (4/5)

We were also able to pinpoint the origin of some of the mutations, in the development of the fetus or the maternal germline (3/5)

However, 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)

By 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)

Nature podcast is covering our study on pregnancy loss @hakonjon.bsky.social

This week on the pod 🔊

🦟 Treating mosquitoes for malaria
🧬 The genetics that can lead to pregnancy loss

https://go.nature.com/4dLLUgp

Our 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...

Complete human recombination maps www.nature.com/articles/s41... - continuation of 25 yeas of work in building recominbation maps.