Ásmundur Oddsson (Ási)

Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality Nature Communications - Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. Here, using genetic data for 1.52 million...

🧵In the current study we also observed a compound heterozygous pLoF genotype in CPLANE1 among euploid lost fetuses.
In our previous study we noted a suggestive deficit of homozygosity for this variant.

rdcu.be/em94l

Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality Nature Communications - Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. Here, using genetic data for 1.52 million...

🧵In a previous study from decode genetics we identified a large deficit of homozygosity for DHCR7 c.964-1G>C variant and we also observed increased risk of miscarriage in carrier couples.
In the current study among 366 trios studied, one fetus was homozygous for this variant

rdcu.be/em94l

Sequence diversity lost in early pregnancy Nature - Around 1 in 136 pregnancies is lost due to a pathogenic small sequence variant genotype in the fetus.

🧬 Here we characterize sequence diversity in early pregnancy loss through whole-genome sequencing of 1,007 fetal samples and 934 parental samples from 467 trios affected by pregnancy loss (fetus, mother and father).
rdcu.be/em0Z6

🔬 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