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dalygene.bsky.social

@dalygene.bsky.social
219 followers 47 following 5 posts

Geneticist…trying to make what we do useful for medicine. Blessed with amazing family. Hope you have a beautiful day!

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Masahiro Kanai @masakanai.bsky.social · 30/09/2026
Our single-nucleus immune multiome atlas is now out in @nature.com! 🧬 10M PBMCs from 1,108 @finngen.bsky.social donors recruited by Finnish Blood Service, profiled at @broadinstitute.org with chromatin accessibility and gene expression in the same nuclei, to trace how disease variants act 🧵👇
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FinnGen @finngen.bsky.social · 01/10/2026
Using data from more than 1,100 Finnish blood donors participating in FinnGen, @masakanai.bsky.social and colleagues have created an atlas of over 10 million immune cells that links disease-associated genetic variants to the genes they control. The findings were just published in @nature.com.
Graphic announcing a new publication in Nature. The article is titled “Population-scale immune multiome atlas reveals regulatory disease mechanisms.” The publication date is 30 September 2026. The FinnGen logo appears on the right side of the graphic.
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Angie @angieispissed.bsky.social · 31/05/2025
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Ian Boudreau @ianboudreau.com · 23/02/2025
Maybe corny but it was helpful for me to hear Henry Rollins saying "this is not time to be dismayed, this is punk rock time, this is what Joe Strummer trained you for... You can be thunderous in your own life, to the eight people around you. That rubs off... Goodness is viral"
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Dan Kaszeta FRHistS @dankaszeta.bsky.social · 06/02/2025
The Papua New Guinea Courier is in rare form.
Screenshot from "Letter from our correspondent" in "Papua New Guinea Courier"
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Institute for Molecular Medicine Finland (FIMM) @fimm-uh.bsky.social · 06/02/2025
Last call! The deadline for applications to our FIMM-EMBL International PhD Programme is tomorrow, 7 Feb! Don't miss this opportunity to pursue your doctoral studies in a unique, ambitious and interdisciplinary research environment. 🔗 jobs.helsinki.fi/job/Helsinki... #PhDposition #PhDopportunity
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Jack Kosmicki @jakphd.bsky.social · 05/02/2025
Nice paper showing ~1/540 people have a sex chromosome trisomy from 3 large biobanks (UKB, FinnGen, MVP) comprising 1.5 million individuals along with their phenotypic impact. www.medrxiv.org/content/10.1...
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🦋MOM🦋 @momcjl.bsky.social · 20/01/2025
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dalygene.bsky.social @dalygene.bsky.social · 10/01/2025
Curiously, the longer-standing very common signal at the locus that @timfrayling.bsky.social highlights has pinpointed the gene for years (and seems to include another missense variant in credible set rs10305420) seems more strongly associated to obesity in UKBB & FG...
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dalygene.bsky.social @dalygene.bsky.social · 10/01/2025
As @kauralasoo.bsky.social points out rs10305492 (A316T) is a lights out conclusively fine-mapped (PIP>0.99) for lower glucose and HbA1c in UKBB & FinnGen - T2D protective in multi-biobank mvp-ukbb.finngen.fi/variant/6:39...
mvp-ukbb.finngen.fi
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FinnGen @finngen.bsky.social · 05/12/2024
Million Veteran Program & FinnGen teams are pleased to release v1 meta-analysis of MVP, FinnGen and UKBB GWAS data. This first version includes ~300 binary disease definitions across >1.5 M individuals. Browse scans at: mvp-ukbb.finngen.fi
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dalygene.bsky.social @dalygene.bsky.social · 27/11/2024
Independently reported a few days later by @alnylam.bsky.social in UKBB exomes: www.medrxiv.org/content/10.1...
medrxiv.org
Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration
Age-related macular degeneration (AMD) is a leading cause of blindness among older adults worldwide, but treatment options are limited. Prior genetics studies have implicated the CFH locus, which cont...
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dalygene.bsky.social @dalygene.bsky.social · 27/11/2024
Sometimes going 5 levels of conditional fine-mapping reveals something new about an old association! Great work from @heikorunz.bsky.social @mpreeve.bsky.social Seppo Meri's Lab and @finngen.bsky.social
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dalygene.bsky.social @dalygene.bsky.social · 22/11/2024
Totally agree - FM from meta of heterogeneous GWAS is very imprecise (see @masakanai.bsky.social papers) and I cannot imagine anyone would say we have a near complete annotation of functional non-coding elements. Impossible to interpret then when FM points to unannotated variants...
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Tuuli Lappalainen @tuuliel.bsky.social · 20/11/2024
I agree with this, and would add that data of regulatory annotations doesn't cover all cell types where the variant effect might be driving the trait association. scATAC probably has the best coverage of cell types, but it's not perfect either.
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