Bjarni Halldórsson

Complete human recombination maps nature.com/articles/s4158… - continuation of 25 yeas of work in building recominbation maps.

Our study of WGS of all UK biobank participants published in final form rdcu.be/ezAyi

✅ Published in @Nature today, the paper describing the initial whole-genome sequencing analysis of 500,000 UK Biobank participants. nature.com/articles/s4158…

Sequence diversity lost in early pregnancy | Nature @nature congrats to all collaborators on this landmark paper nature.com/articles/s4158…

@PalssonGunnar @decodegenetics @Skarkalinn @hakon_jon @stefansson_oa @hannespetur @patsule rdcu.be/d688h - Sharing link for main paper.

@PalssonGunnar @decodegenetics @Skarkalinn @hakon_jon @stefansson_oa @hannespetur @patsule Research briefing summarizing the work nature.com/articles/d4158…

Complete human recombination maps nature.com/articles/s4158… - continuation of 25 yeas of work in building recominbation maps.

Another mind-blowing discovery from deCODE team. Homozygosity of a loss of function variant (p.Arg162Ter) in CCDC201, an obscure gene that was only recently added to human gene database, is associated with a whopping 9 years earlier onset of menopause. This effect size is larger than clinically important genetic risk factors of ovarian insufficiency like FMR1 premutation which is associated with around 5 years earlier onset of menopause. When defining in binary terms, homozygosity of Arg162Ter is associated with 35-fold increased risk of early age at onset (<45 y ; 93% of carriers attained menopause < 45 y) and 27-fold increased risk of primary ovarian insufficiency (33% of carriers attained menopause <40 y). The largest effect sizes identified by exome-wide association studies were no where close to this effect size, as you can see from this plot from an earlier GWAS (nature.com/articles/s4158…). deCODE has a special interest in understanding the recessive effects of deleterious mutations in the human genome (e.g. nature.com/articles/s4146…). I've written one thread on a related paper (x.com/doctorveera/st…). The current one is a new addition to their long list of papers on homozygous mutations. If you wonder why previous ExWAS did not find this association, it turned out this gene was absent in past protein-coding gene annotations. It was only added recently. So, old exome capture kits do not cover this gene. Even, there is no entry for this gene in OMIM. The function of this gene is yet to be understood. But the gene is highly expressed in ovary, placenta and breast. In GTEx, the authors find that this gene is expressed in ovarian tissue of premenopausal women, but non-existent in post menopausal women. It seems this gene is a target of an oocyte specific transcription factor. The authors speculate that this gene plays a critical role in oocyte maturation and survival. This gene will go into the gene panel for primary ovarian insufficiency screening. The variant is mainly seen in the European populations. This finding might also open new therapeutic ideas to treat infertility in women. Great work. Oddsson et al. Nat Gen nature.com/articles/s4158…

The correlation between CpG methylation and gene expression is driven by sequence variants nature.com/articles/s4158…

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease | Nature Communications Congrats to my colleagues nature.com/articles/s4146…

Coming to #ESHG2024? Are you missing #methylation data? 3 June, 12pm @brynjad93 from @decodegenetics will present "Large-scale methylation studies using nanopore sequencing" at the @nanopore satellite symposium. Register: #register" target="_blank" rel="nofollow noopener">nanoporetech.com/about/events/c… #genomics #wymm @eshgsociety

Proud to announce that our study on comparing the 5-mCpG methylation detection of 7179 ONT sequenced samples to 132 oxBS samples and 50 PacBio sequence samples has been published in @GenomeBiology 1/7 doi.org/10.1186/s13059…

A press release from deCODE and an interview with Valgerður and Kári, the first and last authors on the paper. decode.com/a-sequence-var…

We had previously shown that this variant affects the lcation of crossovers and now show that it also affects pregnancy loss.

Variant in the synaptonemal complex protein SYCE2 associates with pregnancy loss through effect on recombination nature.com/articles/s4159… @decodegenetics @patsule @hakon_jon @PalssonGunnar

Whole genome sequencing of half-a-million UK biobank participants medrxiv.org/content/10.110…