@eatsai
Joined March 2012
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14Media
1/10 Large eQTL resources enable identification of genes for which cis-eQTL effects colocalize with GWAS hits. We are happy to announce that our MetaBrain study and eQTL resource is now out at Nature Genetics (nature.com/articles/s41588-0…).
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Our paper on rare variant associations in the UK Biobank is out in Cell Genomics today! cell.com/cell-genomics/fullt…

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,84...

Karczewski et al. generated a massive-scale association dataset between rare genetic mutations and thousands of diseases and traits and released these data in the Genebass browser. They quantify the...

cell.com
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New preprint led by Jamie Robinson, @tomrgaunt, @oldz84! Privileged to be on the team with my Biogen colleagues @YunFengHuang618, @denis_baird, @eatsai. An efficient and robust tool for colocalisation: Pair-wise Conditional and Colocalisation (PWCoCo) biorxiv.org/content/10.1101/…

An efficient and robust tool for colocalisation: Pair-wise Conditional and Colocalisation (PWCoCo)

Genetic colocalisation is an important tool to test for shared genetic aetiology and is commonly used to strengthen causal inference in genetic studies of molecular traits and drug targets. However,...

biorxiv.org
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Genetic associations affecting gene expression are often dependent on unknown (biological) context. In our latest preprint, we introduce PICALO: a method that identifies hidden eQTL contexts that we refer to as Principal Interaction Components (PICs). biorxiv.org/content/10.1101/… 1/8
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New preprint! We studied how rare protein-coding variants impact cognitive function & linked diseases in @uk_biobank. We identified 8 large-effect cog fx genes, dosage-sensitivity for KDM5B, additivity of rare variant and polygenic risk & more (1/12) medrxiv.org/content/10.1101/…

The impact of rare protein coding genetic variation on adult cognitive function

Compelling evidence suggests that cognitive function is strongly influenced by genetics. Here, we conduct a large-scale exome study to examine whether rare protein coding variants impact cognitive...

medrxiv.org
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Excited to share our new preprint: the first exome study of muscle strength in the adult population. We linked rare protein-coding variant information to hand grip strength (HGS) data in @uk_biobank, identifying 6 muscle strength genes & more (1/6) medrxiv.org/cgi/content/shor…
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Very excited that our joint @FinnGen_FI+@uk_biobank coding variant #research is out with @SpringerNature in @Nature. Rare & common disease genetics, >650k, >700 diseases, lots of cool insights. More to follow! rdcu.be/cHCMs nature.com/articles/s41586-0…
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Really great to see our GWAS in #ALS #MND now published in @NatureGenet. A huge collaboration with researchers around the World, including ~30K ALS patients. See open access publication here: nature.com/articles/s41588-0….
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We're thrilled to release a manuscript on rare variant association testing on the exomes of 300k individuals in the UK Biobank medrxiv.org/content/10.1101/… and a browser of the results: genebass.org

Systematic single-variant and gene-based association testing of 3,700 phenotypes in 281,850 UK...

Genome-wide association studies have successfully discovered thousands of common variants associated with human diseases and traits, but the landscape of rare variation in human disease has not been...

medrxiv.org
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Delighted to share our latest preprint: the largest analysis assessing the contribution of rare genetic variants to the risk of depression, based on the exomes from 320,356 @uk_biobank participants medrxiv.org/content/10.1101/…

Whole exome sequencing in the UK Biobank reveals risk gene SLC2A1 and biological insights for major...

Nearly two hundred common-variant depression risk loci have been identified by genome-wide association studies (GWAS)[1][1]–[4][2]. However, the impact of rare coding variants on depression remains...

medrxiv.org
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Great to see the preprint of our ALS GWAS out on medRxiv: disq.us/t/3vjvhgx. Here's a quick summary:
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Ellen Tsai retweeted
Heiko Runz@heikorunz15 Oct 2019
Check out @Biogen at #ASHG19 career fair: we're building a strong team to leverage & move beyond genetics towards the treatment of devastating brain, muscle and eye diseases
Chris Whelan@chrisdwhelan15 Oct 2019
More information on our open positions at Biogen, for geneticists interested in moving to biotech / drug discovery. #ASHG2019 #ASHG19
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This is amazing #marchforscience
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There were so many good dogs at the #MarchforScience, we can’t pick a favorite trib.al/iPrY9Wu
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Here's what it was like at the #MarchForScience scifri.me/c01
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Searches for "how can I move to Canada" on Google have spiked +350% in the past four hours #SuperTuesday
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Ellen Tsai retweeted
Eric Topol
@EricTopol26 Jun 2015
Here's the full graphic for risk factors over the course of lifespan (see prior tweet)
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YA: downloaded pedigree data from over 40 million people from Geni.com. Largest single pedigree has ~13M people! #ASHG2013
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Human chromosome number, anyone? #ASHG2013 #badgematch find me at poster 1488W at 11:30 today
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Google to include user names, pictures in ads: Here's how to opt out lati.ms/pJWnw
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