Negative selection on human genes underlying inborn errors depends on disease outcome and both the m...
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance
About this item
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Author / Creator
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 and Patin, Etienne
Publisher
United States: National Academy of Sciences
Journal title
Language
English
Formats
Publication information
Publisher
United States: National Academy of Sciences
Subjects
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Scope and Contents
Contents
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 an...
Alternative Titles
Full title
Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7826345
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7826345
Other Identifiers
ISSN
0027-8424
E-ISSN
1091-6490
DOI
10.1073/pnas.2001248118
