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Article

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance.

Proceedings of the National Academy of Sciences of the United States of America - 19 Jan 2021

Rapaport Franck, Boisson Bertrand, Gregor Anne, Béziat Vivien, Boisson-Dupuis Stéphanie, Bustamante Jacinta, Jouanguy Emmanuelle, Puel Anne, Rosain Jérémie, Zhang Qian, Zhang Shen-Ying, Gleeson Joseph G, Quintana-Murci Lluis, Casanova Jean-Laurent, Abel Laurent, Patin Etienne

Abstract excerpt

Genetic variants underlying life-threatening diseases, being unlikely to be transmitted to the next generation, are gradually and selectively eliminated from the population through negative selection. We study the determinants of this evolutionary process in human genes underlying monogenic diseases by comparing various negative selection scores and an integrative approach, CoNeS, at 366 loci underlying inborn...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33408250
DOI: 10.1073/pnas.2001248118
PMCID: PMC7826345

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