asmundurhreinn Nature Genetics Guðjón Óskarsson Congrats for the team effort A very important finding for young couples The finding highlights the importance of testing recessive models in addition to the baseline codominant (aka additive). CCDC201 is a one of few genes recently identified, due to its restricted expression

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

Super cool work from deCode colleagues. A variant that first seemed to be intergenic turns out to be a stop-gain in an obscure gene causing much earlier menopause in women👀 I wonder how many "new" genes are still to be found? asmundurhreinn Patrick Sulem

Here is yet another set of insightful comments, by Andres A. Arias ! Maybe I will abstain, as they said it all 🙂

I am not a doctor and not giving advice here, but this has been blown entirely out of proportion. The number of extra mutations with age is still very small and most of them will not have any impact. It has been linked to slightly increased risks of various disorders, but these

My favourite discovery ever has just come online. Can I please tell you about some seriously wacky molecular biology? The story starts with a reverse transcriptase that SOMEHOW defends bacteria from viruses. (👇 I recommend sound ON for the video 🎹) 1/

Can we all have a moment of sympathy for DNA – it has had a rough week 🧬 First, proteins not predicted by genetic code 😮 biorxiv.org/content/10.110… Then, inheritance without genes through amyloid protein 🤯 nature.com/articles/s4155… Biology is amazing!

Early this year, we learned about recurrent de novo mutations in a small nuclear RNA (snRNA) gene (RNU4-2) as one of the most common causes of neurodevelopmental disorders (NDD). Well, it appears that it might be just the tip of the iceberg of snRNA gene mutations causing NDD.

Veera Rajagopal  Couldn’t agree more, such an incredible finding! I wrote about it here:

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