Ásmundur Oddsson (Ási)
@asmundurhreinn.bsky.social
🔬 Senior Data Scientist @ deCODE Genetics, Reykjavik, Iceland
🧬 Specializing in human genetic research.
📚 Lifelong learner | ⌨️ Passionate emacs user.
🧬 Specializing in human genetic research.
📚 Lifelong learner | ⌨️ Passionate emacs user.
🧵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
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...
rdcu.be
May 22, 2025 at 1:39 PM
🧵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
In our previous study we noted a suggestive deficit of homozygosity for this variant.
rdcu.be/em94l
🧵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
In the current study among 366 trios studied, one fetus was homozygous 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...
rdcu.be
May 22, 2025 at 1:39 PM
🧵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
In the current study among 366 trios studied, one fetus was homozygous for this variant
rdcu.be/em94l
🧬 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
rdcu.be/em0Z6
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.
rdcu.be
May 22, 2025 at 1:39 PM
🧬 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
rdcu.be/em0Z6