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10 months ago 21182 4058 413 158

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"

1 year ago 16036 3127 203 196
Screenshot from "Letter from our correspondent" in "Papua New Guinea Courier"

Screenshot from "Letter from our correspondent" in "Papua New Guinea Courier"

The Papua New Guinea Courier is in rare form.

1 year ago 29983 10877 1162 1803
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1 year ago 1 1 0 0
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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...

1 year ago 8 4 1 2
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1 year ago 9748 2233 192 201

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...

1 year ago 2 0 0 0

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...

1 year ago 6 2 1 0
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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

1 year ago 48 24 1 5
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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...

Independently reported a few days later by @alnylam.bsky.social in UKBB exomes: www.medrxiv.org/content/10.1...

1 year ago 3 0 2 0
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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

1 year ago 1 0 1 0

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...

1 year ago 1 0 0 0

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.

1 year ago 11 1 1 0