Fraction of point mutations that are deleterious

Range ≤10 %
Organism Human Homo sapiens
Reference Kondrashov A. Genetics: The rate of human mutation. Nature. 2012 Aug 23 488(7412):467-8. doi: 10.1038/488467a. p.468 left column 3rd paragraphPubMed ID22914161
Primary Source 1) Kong et al., Rate of de novo mutations and the importance of father's age to disease risk. Nature. 2012 Aug 23 488(7412):471-5. doi: 10.1038/nature11396. (5) Shabalina SA, Ogurtsov AY, Kondrashov VA, Kondrashov AS. Selective constraint in intergenic regions of human and mouse genomes. Trends Genet. 2001 Jul17(7):373-6.PubMed ID22914163, 11418197
Method Primary source [1] abstract:"[Researchers] conduct a study of genome-wide mutation rates by sequencing the entire genomes of 78 Icelandic parent-offspring trios at high coverage."
Comments "In humans, as many as 10% of point mutations are deleterious [primary source 5], so Kong and colleagues' [primary source 1, 60 new mutations/generation BNID 110293] findings suggest that an average newborn carries six new deleterious mutations"
Entered by Uri M
ID 110296