Bjarni V. Halldórsson

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...

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 variation a...

✅ 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...

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...

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!

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@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 aneuploidies and pregnancy loss.

Nature research paper: Complete human recombination maps

https://go.nature.com/40J595a

@hannespetur.bsky.social

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.

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

We show that the number of NCOs increases rapidly with the age of the mother in a non-regulated fashion.

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.

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