Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants




Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants by Wenqing Fu et. al. published in Nature (2012) doi:10.1038/nature11690. Abstract Establishing the age of each mutation segregating in contemporary human populations is important to fully understand our evolutionary history1, 2 and will help to facilitate the development of new approaches for […]






Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes




Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes by Jacob A. Tennessen, et. al. published in Science 6 July 2012, Vol. 337 no. 6090 pp. 64-69 DOI: 10.1126/science.1219240 Abstract As a first step toward understanding how rare variants contribute to risk for complex diseases, we sequenced 15,585 human protein-coding […]