Augix Guohua XU's List: Population Genetics

• The nature and scale of recombination rate variation are largely unknown for most species.
• We demonstrate that recombination hotspots  are a ubiquitous feature of the human genome, occurring on average every 200 kilobases or less, but recombination occurs preferentially  outside genes.

• We investigated the rate  and pattern of mutations at the nucleotide level by comparing pseudogenes in humans and chimpanzees
• The average mutation rate was estimated to be ∼2.5 x 10^-8 mutations per nucleotide site or 175 mutations per diploid genome per generation.

• • this syndrome is mainly affected by paternal mutations which increase with age.

• Here we used genome-wide SNP data from 15,257 parent–offspring pairs to construct the first recombination maps based on directly observed recombinations with a resolution that is effective down to 10 kilobases (kb).
• • recombination is much higher out of exonic regions.
• 15% of hotspots in one sex are specific to that sex

1 more annotation...

• • females have high recombination. recombination happens more in the edge of chr.

• We also directly estimated a human intergeneration mutation rate of  ~1.1 × 10⁻⁸ per position per haploid genome.
• Recombination in maternal meioses is thought to occur 1.7 times more frequently than in paternal meioses (8). We inferred 98 crossovers in maternal and 57 in paternal meioses (count includes both offspring)