… likely to be deleterious. Here, we have evaluated the ability of a LRT … identify deleterious
mutations within three human genomes. We identified a similar number of deleterious mutations…

… deleterious mutations are rare, a significant fraction is common in the population. For example,
19% of deleterious mutations identified in three human genomes … deleterious mutations …

… manuscript originally published in Genome Research in 2009. Large … identify deleterious
mutations within three human genomes. We identified a similar number of deleterious mutations…

… are rare deleterious mutations whose damaging effects on fitness … We next identified human
variants that are identical-by-state … to the number of human genomes and exomes that have …

… the human genome is becoming a standard approach in identifying causal genes for human
… For clarity, throughout this paper, being deleterious means that an nsSNV is under purifying …

… To more directly identify putatively deleterious SNVs, we used four functional prediction
methods (SIFT 13 , PolyPhen2 (ref. 14), a likelihood ratio test 15 , MutationTaster 16 ) applicable …

… with weaker selection against deleterious base substitutions in … observation of indel
enrichment at either end of genes 23 . … investigation of mutation mechanisms to identify probable …

… homozygotes for strongly deleterious mutations, inbreeding … at putatively neutral sites across
the human genome. … genotypes, probably resulting from identity by descent as the result of …

… human genome at an average density of one indel per 9 kb. … The SJK mitochondrial genome
did not contain deleterious … , we identified 3.4 million SNPs, out of which over 0.4 million (…

… Approaches to identify deleterious mutations take one of two forms. Quantitative genetic
approaches have been … A map of human genome variation from population-scale sequencing …