A direct multi-generational estimate of the human mutation rate from autozygous segments seen in thousands of parentally related individuals
Vagheesh M Narasimhan, Raheleh Rahbari, Aylwyn Scally, Arthur Wuster, Dan Mason, Yali Xue, John Wright, Richard C Trembath, Eamonn R Maher, David A van Heel, Adam Auton, Matthew E Hurles, Chris Tyler-Smith, Richard Durbin
The paper estimates the human mutation rate using autozygous segments from 3,222 British-Pakistani individuals, finding a lower mutation rate than previous estimates and population-specific mutational patterns.
bioRxiv · Jun 17, 2016 · PreprintGenomics