A systematic survey of loss-of-function variants in human protein-coding genes.

A systematic survey of loss-of-function variants in human protein-coding genes.

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Genome-sequencing studies indicate that all humans carry many genetic variants predicted to cause loss of function (LoF) of protein-coding genes, suggesting unexpected redundancy in the human genome. Here we apply stringent filters to 2951 putative LoF variants obtained from 185 human genomes to det...

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Bibliographic Details
Main Authors: MacArthur, D, Balasubramanian, S, Frankish, A, Huang, N, Morris, J, Walter, K, Jostins, L, Habegger, L, Pickrell, J, Montgomery, S, Albers, C, Zhang, Z, Conrad, D, Lunter, G, Zheng, H, Ayub, Q, DePristo, M, Banks, E, Hu, M, Handsaker, R, Rosenfeld, J, Fromer, M, Jin, M, Mu, X, Khurana, E
Format: Journal article
Language:English
Published: 2012

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