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Article

Global human frequencies of predicted nuclear pathogenic variants and the role played by protein hydrophobicity in pathogenicity potential.

Scientific reports - 21 Nov 2014

Pereira Luísa, Soares Pedro, Triska Petr, Rito Teresa, van der Waerden Agnes, Li Biao, Radivojac Predrag, Samuels David C

Abstract excerpt

Mitochondrial proteins are coded by nuclear (nDNA) and mitochondrial (mtDNA) genes, implying a complex cross-talk between the two genomes. Here we investigated the diversity displayed in 104 nuclear-coded mitochondrial proteins from 1,092 individuals from the 1000 Genomes dataset, in order to evaluate if these genes are under the effects of purifying selection and how that selection compares with their...

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Identifiers

PMID: 25412673
DOI: 10.1038/srep07155
PMCID: PMC4239565

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