The sequencing of the exome — protein-coding regions of DNA — from 200 individuals is reported this week in Nature Genetics. This large scale sequencing study brings insights into patterns of genetic variation in a European population.
Jun Wang and colleagues used the first exome sequencing of this large number of individuals to characterize patterns of population genetic variation, including low frequency genetic variants. They find that protein-coding regions of the genome harbor more low-frequency deleterious mutations than expected from previous studies, and suggest that this is due to strong purifying selection.
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