Understanding rare and common diseases in the context of human evolution

The wealth of available genetic information is allowing the reconstruction of human demographic and adaptive history. Demography and purifying selection affect the purge of rare, deleterious mutations from the human population, whereas positive and balancing selection can increase the frequency of a...

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Published in:Genome Biology 2016-11, Vol.17 (1), p.225-225, Article 225
Main Author: Quintana-Murci, Lluis
Format: Article
Language:English
Subjects:
Adaptation
Demography
Deoxyribonucleic acid
Disease
Disease - genetics
DNA
Environmental conditions
Evolution, Molecular
Genetic diversity
Genetics, Population
Genomes
Hominids
Humans
Infectious diseases
Models, Genetic
Mutation
Phenotypes
Polymorphism
Polymorphism, Genetic
Population genetics
Population studies
Review
Science
Selection, Genetic
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creator Quintana-Murci, Lluis
description The wealth of available genetic information is allowing the reconstruction of human demographic and adaptive history. Demography and purifying selection affect the purge of rare, deleterious mutations from the human population, whereas positive and balancing selection can increase the frequency of advantageous variants, improving survival and reproduction in specific environmental conditions. In this review, I discuss how theoretical and empirical population genetics studies, using both modern and ancient DNA data, are a powerful tool for obtaining new insight into the genetic basis of severe disorders and complex disease phenotypes, rare and common, focusing particularly on infectious disease risk.
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subjects Adaptation
Demography
Deoxyribonucleic acid
Disease
Disease - genetics
DNA
Environmental conditions
Evolution, Molecular
Genetic diversity
Genetics, Population
Genomes
Hominids
Humans
Infectious diseases
Models, Genetic
Mutation
Phenotypes
Polymorphism
Polymorphism, Genetic
Population genetics
Population studies
Review
Science
Selection, Genetic
title Understanding rare and common diseases in the context of human evolution
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