Discover and read the best of Twitter Threads about #gnomad
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Up bright and early for day 2 of #ASHG22. Looking forward to more science and catching up with colleagues in sunny LA!
Also: I am looking to grow my team in Boston and have open positions across various levels, and would love to chat with anyone who is interested in studying patterns of rare variation in large genomic datasets. #ASHG22
Reach out or find me if interested!
Reach out or find me if interested!
If you are curious about the type of work we do, please come see a talk by phenomenal graduate student Lily Wang this morning at 9:30am.
ProgNbr 116: "The landscape of regional missense mutational intolerance quantified from 125,748 exomes" in Petree C.
ProgNbr 116: "The landscape of regional missense mutational intolerance quantified from 125,748 exomes" in Petree C.
Really impressive talk on noncoding #constraint in #gnomAD genomes from Siwei Chen (@konradjk's lab).
#ASHG21
#ASHG21
Chen: Calculated constraint on 1kb windows using Z scores.
How do known non-coding elements (like enhancers) look when viewed through the lens on constraint?
#ASHG21
How do known non-coding elements (like enhancers) look when viewed through the lens on constraint?
#ASHG21
Chen: When looking at largest constraint Z-scores (top Z-score was 4 on the figures)
- Super enhancers ~3x enriched
- ENCODE cCRE enhancers ~2.25x enriched
- FANTOM enhancers ~1.75x enriched
#ASHG21
- Super enhancers ~3x enriched
- ENCODE cCRE enhancers ~2.25x enriched
- FANTOM enhancers ~1.75x enriched
#ASHG21
