Bjarni V. Halldórsson
bvhalldorsson.bsky.social
Bjarni V. Halldórsson
@bvhalldorsson.bsky.social
Head of Sequence Analysis, deCODE genetics. Associate Professor, Biomedical Engineering, Reykjavik University.
Our study of WGS of all UK biobank participants published in final form
rdcu.be/ezAyi
Whole-genome sequencing of 490,640 UK Biobank participants
Nature - A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human...
rdcu.be
August 6, 2025 at 4:20 PM
Reposted by Bjarni V. Halldórsson
✅ Published in @natureportfolio.nature.com today, the paper describing the initial whole-genome sequencing analysis of 500,000 UK Biobank participants.

Read here: www.nature.com/articles/s41...
Whole-genome sequencing of 490,640 UK Biobank participants - Nature
A study reports whole-genome sequences for 490,640 participants from the UK Biobank and combines these data with phenotypic data to provide new insights into the relationship between human variation a...
www.nature.com
August 6, 2025 at 3:17 PM
Reposted by Bjarni V. Halldórsson
Complete human recombination maps (including non-cross over recombination) based whole-genome sequence data in families

Some nice new insights on meiosis differences between the sexes too!

🧪
@natureportfolio.bsky.social

www.nature.com/articles/s41...
Complete human recombination maps - Nature
Complete human recombination maps are presented that enable exploration of both cross-over and non-cross-over events during meiosis, with the potential to provide insight into the causes of aneuploidi...
www.nature.com
January 24, 2025 at 4:07 PM
Reposted by Bjarni V. Halldórsson
January 22, 2025 at 4:13 PM
NCOs are substantially more prominent than COs in centromeres, possibly to avoid large-scale genomic changes that may cause aneuploidy. NCOs are more common in genes, presumably to preserve coding integrity.
January 22, 2025 at 4:13 PM
Recombination, primarily NCO, is responsible for 1.8% (95% CI: 1.3-2.3) and 11.3% (95% CI: 9.0-13.6) of paternal and maternal de novo mutations (DNMs), respectively, and may drive the increase in DNMs with maternal age
January 22, 2025 at 4:13 PM
We show that the number of NCOs increases rapidly with the age of the mother in a non-regulated fashion.
January 22, 2025 at 4:13 PM
Recombination occurs in two forms, crossover (CO) and non-crossover (NCO). NCOs are more diffcult to detect and have until now not been included in recombination maps.
January 22, 2025 at 4:13 PM
Complete human recombination maps www.nature.com/articles/s41... - continuation of 25 yeas of work in building recominbation maps.
www.nature.com
January 22, 2025 at 4:13 PM