Duncan Sproul
sproullab.bsky.social
Group leader at MRC Human Genetics Unit, University of Edinburgh. Interdisciplinary research on disease #epigenetics. Part-time solo dad. Occasional music and climbing. https://institute-genetics-cancer.ed.ac.uk/research/research-groups-a-z/sproul-group
👤 Joined on 06 September 2023
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- 06 Eyl 2023, 10:37
🎉 Bluesky'e katıldı - İlk kullanıcı adı:
@sproullab.bsky.social - 12 Kas 2023, 23:51
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Combining MAVEs with a predictor trained without population data reclassified over 90% of VUS. This suggests experiments and ancestry-unbiased models could help close the diagnostic gap in underrepresented populations. Joint work with @jmarshlab.bsky.social, @pxthxk.bsky.social and NTU Singapore.
Show PostHow do computational predictors compare with experimental assays (MAVEs) for variant classification? Across five hereditary cancer genes, MAVE scores were more conservative (fewer pathogenic calls) yet more decisive (fewer indeterminate calls) after ACMG/AMP calibration. doi.org/10.1186/s130...
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IMO the paper of the year in the gene regulation field - such a clean and clear study, showing how promoter-enhancer contacts mediate transcriptional activation. www.cell.com/cell/abstrac...
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Amazing paper! Also amazing to do some of the most advanced imaging and still drawing absolutely rudimentary figures with powerpoint 😅
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