March 7, 2019

Genetics week in review

  • The last time I needed data on recombination in the human genome I went back to HapMap, which was published in 2005. In human genetics terms, that's a different era. Now deCODE has come out with a recombination map based on whole-genome sequencing. One interesting insight: Recombination is mutagenic. "Both sexes show an ~50-fold increase in [de novo mutations] within 1 kb of crossovers, but the types of DNMs differ considerably between the sexes". In addition, they find 34 loci associated with recombination, in addition to the already known PRDM9
  • On phenotypic screening. Do human knockout-based projects qualify as phenotypic screening?

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