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.

Εμφάνιση άλλων εκδόσεων (1)

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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	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
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	2012

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