The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes.

Short insertions and deletions (indels) are the second most abundant form of human genetic variation, but our understanding of their origins and functional effects lags behind that of other types of variants. Using population-scale sequencing, we have identified a high-quality set of 1.6 million ind...

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Main Authors: Montgomery, S, Goode, D, Kvikstad, E, Albers, C, Zhang, Z, Mu, X, Ananda, G, Howie, B, Karczewski, K, Smith, K, Anaya, V, Richardson, R, Davis, J, MacArthur, D, Sidow, A, Duret, L, Gerstein, M, Makova, K, Marchini, J, McVean, G, Lunter, G
格式: Journal article
语言:English
出版: 2013