Hákon Jónsson

Currently seeking collaborators for a de novo mutation project: If you have (or can collect) sperm or ova samples from organisms of known age please get in touch

@bvhalldorsson @TheGenomeLab Note that in this figure we are lumping together splice, promoter and enhancer regions, as we are only considering distance from a coding exon across all gene sizes.

@bvhalldorsson @TheGenomeLab Our guesses are insufficient modeling of the methylated CpGs or the size of the windows ascertain the noncoding elements that we can assess (e.g. a gene must have an intron size greater than 500bp to be recorded to have DR score).

Have been enjoying the recent UK Biobank WGS paper from @bvhalldorsson et al, but can anybody explain the V's in this figure? nature.com/articles/s4158…

The sequences of 150,119 genomes in the UK biobank nature.com/articles/s4158… The first release of our sequencing of all 500k individuals of the UKB. Below is a short run through of some of our main findings 1/12

Excited to share the last paper of my PhD thesis. We generate microsatellite genotypes for over 50 thousand Icelandic and over 150 thousand UK Biobank samples. doi.org/10.21203/rs.3.… 1/7

Our paper on a natural mutator allele affecting the mouse germline is out in @Nature! rdcu.be/cNlwZ Congratulations to the fantastic author team that made this project possible! @tomsasani @DavidAshbrook @AnnabelBeichman @AbePalmer @robwilliamsiii @jkpritch

Halló! Við erum að ráða CTO í Pikkoló, við erum leita að drífandi manneskju sem elskar að takast á við fjölbreytt verkefni. Endilega deilið eftirfarandi slóð með frambærilegu fólki jobs.wrk.xyz/pikkolo/24868

PhD position in evolutionary transcriptomics of primate spermatogenesis using single-cell sequencing approaches available at birc.au.dk, Aarhus University. Application deadline May 1, 2022, see tinyurl.com/ytzcnb62. If interested, please contact me for details

Happy to present our paper on the discovery of a new intellectual disability syndrome gene, CPSF3, by using the deficit of carriers of homozygous missense variants in the Icelandic population nature.com/articles/s4146… @asmundurhreinn @bryojen @BjornssonL @patsule

Typical representation of rare variants in VCF files is bloated with homozygous genotypes (zeros). This format quickly becomes unwieldy with large sequencing sets as most variants are rare. This nifty tool condenses duplicate gts. per variant, achieving impressive compression!

For those interested, happy to announce I’ve set up a ko-fi page to simplify commissions of scientific portraits and illustrations of prerecorded talks. ko-fi.com/atjcagan/commi…

Results from Iceland on vaccine status vs risk of hospital admission, and diagnosis pre vs. post dec 15 (when omicron is denfinatively dominating variant) facebook.com/737695093/post…. All credit to @eliaseythorsson - outstanding work

@martiningi @eliaseythorsson Great news, are these figures part of a preprint? If so then I would be keen on reading it.

PhD and post-doc positions in population genomics and evolutionary transcriptomics of human spermatogenesis available this year in my group, Bioinformatics, Aarhus University @NatSci_AU. Please contact me if interested. First PhD with deadline Feb 1 here tinyurl.com/yckp7xtb.

Langtímaspár um COVID-19 eru mun verri en veðurspár mánuði fram í tímann. Hins vegar myndu flestir lesendur örugglega ekki láta bjóða sér að lesa tugi greina í desember um veðrið þann 1. maí. Ég er kominn með leið á þessum fréttum, það væri gott að fá annað eldgos.

@CharrVein @trvrb Það er gaman að sjá grein á íslensku um SARS-CoV-2 sem kafar undir yfirborðið.

@CharrVein @trvrb Þessi mikli fjöldi stökkbreytingar í S hjá ómíkron er mjög áhugaverður. Ég tel að það myndi bæta greinina að sýna heildaruppsöfnun stökkbreytinga eftir tíma fyrir öll afbrigðin til samanburðar, því að heildarfjöldi stökkbreytinga í ómíkron er ekki óvenjulegur miðað við önnur tíma

@RyanDhindsa @bvhalldorsson @decodegenetics @patsule @hannespetur @kristjanmoore @__h2__ Cool, we have to check out your manuscript. It is always fun to test common assumptions using real data.

@bvhalldorsson @decodegenetics @patsule @hannespetur @kristjanmoore @__h2__ @hakon_jon Nice! Re: selection on syn variants: we also observed this using TopMED genomes, think it's likely due to codon usage: sciencedirect.com/science/articl… Also would be interesting to see how these constraint metrics w/ large sample size compare to prev. approaches (Jarvis, CDTS, etc.)

We prósent our analysis of The sequences of 150,119 genomes in the UK biobank biorxiv.org/content/10.110… @decodegenetics @patsule @hannespetur @kristjanmoore @__h2__ @hakon_jon