Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants


Targeted capture combined with massively parallel exome sequencing is a promising approach to identify genetic variants implicated in human traits. We report exome sequencing of 200 individuals from Denmark with targeted capture of 18,654 coding genes and sequence coverage of each individual exome at an average depth of 12-fold. On average, about 95% of the… (More)
DOI: 10.1038/ng.680


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