bvhalldorsson.bsky.social
Bjarni V. Halldórsson
@bvhalldorsson.bsky.social
59 followers 53 following 7 posts
Head of Sequence Analysis, deCODE genetics. Associate Professor, Biomedical Engineering, Reykjavik University.
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bvhalldorsson.bsky.social
Bjarni V. Halldórsson @bvhalldorsson.bsky.social · Aug 6
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
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Reposted by Bjarni V. Halldórsson
ukbiobank.bsky.social
UK Biobank @ukbiobank.bsky.social · Aug 6
✅ 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
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Reposted by Bjarni V. Halldórsson
magdalenaskipper.bsky.social
Magdalena Skipper @magdalenaskipper.bsky.social · Jan 24
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
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Reposted by Bjarni V. Halldórsson
nature.com
Nature @nature.com · Jan 23
Nature research paper: Complete human recombination maps

https://go.nature.com/40J595a
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 aneuploidies and pregnancy loss.
go.nature.com
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bvhalldorsson.bsky.social
Bjarni V. Halldórsson @bvhalldorsson.bsky.social · Jan 22
@hannespetur.bsky.social
bvhalldorsson.bsky.social
Bjarni V. Halldórsson @bvhalldorsson.bsky.social · Jan 22
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.
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bvhalldorsson.bsky.social
Bjarni V. Halldórsson @bvhalldorsson.bsky.social · Jan 22
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
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bvhalldorsson.bsky.social
Bjarni V. Halldórsson @bvhalldorsson.bsky.social · Jan 22
We show that the number of NCOs increases rapidly with the age of the mother in a non-regulated fashion.
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bvhalldorsson.bsky.social
Bjarni V. Halldórsson @bvhalldorsson.bsky.social · Jan 22
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.
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bvhalldorsson.bsky.social
Bjarni V. Halldórsson @bvhalldorsson.bsky.social · Jan 22
Complete human recombination maps www.nature.com/articles/s41... - continuation of 25 yeas of work in building recominbation maps.
www.nature.com
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