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16 months since the first was on @biorxivpreprint, and just over a year since the first was accepted, the 7 gnomAD papers are finally out in @nature, @NatureMedicine and @NatureComms: https://www.nature.com/immersive/d42859-020-00002-x
Incredibly excited to have been part of this effort! #teamScience (1/5)
Incredibly excited to have been part of this effort! #teamScience (1/5)
This means I get to re-share this video 
â our work to characterise 5âUTR variants that create or disrupt upstream open reading frames (uORFs) and explore their role in disease is now out in @NatureComms: https://www.nature.com/articles/s41467-019-10717-9 @drjamesware @dgmacarthur (2/5)
â our work to characterise 5âUTR variants that create or disrupt upstream open reading frames (uORFs) and explore their role in disease is now out in @NatureComms: https://www.nature.com/articles/s41467-019-10717-9 @drjamesware @dgmacarthur (2/5)
Our collaboration with @23andMeResearch investigating the phenotypic impact of LRRK2 loss-of-function variants is out in @NatureMedicine: https://www.nature.com/articles/s41591-020-0893-5 @imarmean @aaronkleinman. I previously outlined the key points of this work here: https://twitter.com/i/status/1101090535010373632 (3/5)
Since first posting the LRRK2 work on @biorxivpreprint we have also added data from the awesome @uk_biobank â showing that carriers of LRRK2 pLoF variants do not differ from non-carriers across blood and urine biomarkers and for clinical markers of organ function (4/5)
Finally, there is an awful lot of data across these 7 #gnomAD papers - I have written a blog post that drills into some important lessons they teach us, specifically about clinical variant interpretation: https://www.whiffinlab.org/blog/six-lessons-for-variant-interpretation
I hope it is useful! (5/5)
I hope it is useful! (5/5)
