rare gene variant

  1. forestglip

    Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes, 2022, Karczewski et al

    Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes Published: September 14, 2022 [Line breaks added] Highlights • Public release of gene-based association statistics for 4,529 diseases and traits • Genebass, a browser...
  2. Hoopoe

    The unreliability of SNP chip based genetic testing

    Genetic testing can be performed with a device called SNP chip. Not all genetic testing is done with these. Direct-to-consumer genetic testing companies like 23andME often use SNP chips. A problem with SNP chips is that they are unreliable when it comes to rare gene variants. There is the risk...
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