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

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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Huvudupphovsmän:	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
Materialtyp:	Journal article
Språk:	English
Publicerad:	2012

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

Publicerad 2012

Journal article

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

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