Entries from February 2022 ↓

pinboard February 28, 2022

  • Genetic associations of protein-coding variants in human disease | Nature
    Genome-wide association studies (GWAS) have identified thousands of genetic
    variants linked to the risk of human disease. However, GWAS have so far
    remained largely underpowered in relation to identifying associations in
    the rare and low-frequency allelic spectrum and have lacked the resolution
    to trace causal mechanisms to underlying genes1. Here we combined
    whole-exome sequencing in 392,814 UK Biobank participants with imputed
    genotypes from 260,405 FinnGen participants (653,219 total individuals) to
    conduct association meta-analyses for 744 disease endpoints across the
    protein-coding allelic frequency spectrum, bridging the gap between common
    and rare variant studies. We identified 975 associations, with more than
    one-third being previously unreported. We demonstrate population-level
    relevance for mutations previously ascribed to causing single-gene
    disorders, map GWAS associations to likely causal genes, explain disease
    mechanisms, and systematically relate disease associations to levels of 117
    biomarkers and clinical-stage drug targets. Combining sequencing and
    genotyping in two population biobanks enabled us to benefit from increased
    power to detect and explain disease associations, validate findings through
    replication and propose medical actionability for rare genetic variants.
    Our study provides a compendium of protein-coding variant associations for future insights into disease biology and drug discovery.
  • U.N. climate panel issues “bleakest warning yet,” says window to secure a livable future is closing — The Guardian
    Report says human actions are causing dangerous disruption, and window to secure a liveable future is closing
  • (400) https://twitter.com/CelesteHeadlee/status/1497989763894239242/photo/1
    RT @CelesteHeadlee: This photo is my great-grandmother, Bessie Tartakovsky Arvey, born in 1883 in Zhitomir, Ukraine. Her family fled to the US during the Russian pogroms. (They were Jewish). Her daughter married composer William Grant Still (2nd photo)
  • Heat Pumps for Peace and Freedom – by Bill McKibben
  • Russia-Ukraine War: Info and ways to help

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