Joined October 2018
In Variant Bio's most recent blog post, my colleague Paloma Guzzardo describes her recent experience at a "virtual conference" in a very sobering context: link.medium.com/gmc3RdEXD6.
Check out VariantBio's latest blog post by one of my great colleagues, Sarah LeBaron von Baeyer, PhD: "An Anthropologist’s Perspective on COVID-19: Q&A with Dr. Adia Benton" link.medium.com/sAKUjaRc55
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C. Scott Gallagher retweeted
Unimpressed by your scatterplot? Boost your correlation from .23 to .97 by putting the data in fewer bins. familyinequality.wordpress.c…
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Amazing work in the UKBB illustrating how horizontal pleiotropy impacts genetic architecture of many human phenotypes. #bioRxiv #UKBB disq.us/t/3bsqboi
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C. Scott Gallagher retweeted
The gnomAD preprint is out! We aggregated 125,748 exomes and 15,708 genomes into a public resource of >240M high quality variants, available at gnomad.broadinstitute.org/ (1/5). biorxiv.org/content/10.1101/…
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Significant inflation of ‘mendelian’ mutation effect size appears quite common. Beautiful genetics from @mnweedon! I’ve already added it to my syllabus for next year. dx.doi.org/10.1016/j.ajhg.20…
C. Scott Gallagher retweeted
An update to the pLI/constraint work: LOEUF ("loss-of-function observed/expected upper bound fraction"). This is a more direct measure of effect size since it measures the actual depletion of expected LoFs.
Replying to @konradjk
We characterize human protein-coding genes along a spectrum of intolerance to inactivation, creating a "LOEUF" score for every gene - these correlate with known disease status, SV frequency, and essentiality metrics in mouse and cell lines (3/5).
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C. Scott Gallagher retweeted
A timely, thoughtful, and extensive review/perspective on mechanisms underlying sex differences in complex diseases and other traits By @eakhram, Davis, & @be_stranger (@UChicago; @VUMChealth) @NatureRevGenet #Genetics #Genomics #GWAS #QTL #eQTL #ChrX nature.com/articles/s41576-0…
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C. Scott Gallagher retweeted
Update! A revised version of our preprint is up now: biorxiv.org/content/early/20…. Biggest changes: we compare polygenic risk score accuracy across global population in UK Biobank, we assess prediction accuracy for five diseases here + Biobank Japan, and text re: evening imbalance.
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C. Scott Gallagher retweeted
Yes! Small samples generate false positives. And idea that a result from an under-powered study is somehow STRONGER evidence that it must be real, is completely false.
Great animation to see that trying to look for meaning in small samples' differences is often staring at random noise. Raincloud plots with sample size N=50 (left) and N=200 (right). No difference between the two conditions. By @ajstewart_lang
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C. Scott Gallagher retweeted
Great animation to see that trying to look for meaning in small samples' differences is often staring at random noise. Raincloud plots with sample size N=50 (left) and N=200 (right). No difference between the two conditions. By @ajstewart_lang
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I never thought I’d see the day a White House would moonlight as a public relations firm for the Crown Prince of Saudi Arabia. bit.ly/2TwSHRc
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amazing resource from @LudeFranke lab. cis- and trans-eQTL analysis in blood from 31,684 individuals. summary stats eqtlgen.org/index.html; preprint biorxiv.org/content/early/20…
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When I stare at the MBTA map too long, all the lines start to look like weird dragons
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Detection of rare disease-related genetic variants using the birthday model biorxiv.org/cgi/content/shor… #bioRxiv
C. Scott Gallagher retweeted
Exome sequencing identifies high impact trait-associated alleles enriched in Finns biorxiv.org/cgi/content/shor… #bioRxiv
C. Scott Gallagher retweeted
Distinguishing genetic correlation from causation across 52 diseases and complex traits go.nature.com/2RmniPA
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