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Chapter
Positive Selection in Human Populations: Practical Aspects and Current Knowledge
Natural selection targets a heritable trait that provides greater or lower chances for an organism to reproduce, and/or to survive, in a given environment. This evolutionary process is therefore directional: w...
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Article
Open AccessNovel homozygous OSGEP gene pathogenic variants in two unrelated patients with Galloway-Mowat syndrome: case report and review of the literature
Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disorder characterized by early-onset nephrotic syndrome and microcephaly with brain anomalies. WDR73 pathogenic variants were described as the first ...
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Article
Open AccessGenomes reveal marked differences in the adaptive evolution between orangutan species
Integrating demography and adaptive evolution is pivotal to understanding the evolutionary history and conservation of great apes. However, little is known about the adaptive evolution of our closest relatives...
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Article
Open AccessmTOR intersects antibody-inducing signals from TACI in marginal zone B cells
Mechanistic target of rapamycin (mTOR) enhances immunity in addition to orchestrating metabolism. Here we show that mTOR coordinates immunometabolic reconfiguration of marginal zone (MZ) B cells, a pre-activat...
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Article
Genomic analysis of Andamanese provides insights into ancient human migration into Asia and adaptation
Jaume Bertranpetit, Partha Majumder and colleagues analyze whole-genome sequences from Andamanese individuals and compare them to sequences from mainland Indian and other geographically diverse populations. Th...
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Article
Open AccessHuman genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences
Population differentiation has proved to be effective for identifying loci under geographically localized positive selection, and has the potential to identify loci subject to balancing selection. We have prev...
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Article
Open AccessGreat ape genetic diversity and population history
High-coverage sequencing of 79 (wild and captive) individuals representing all six non-human great ape species has identified over 88 million single nucleotide polymorphisms providing insight into ape genetic ...
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Article
Open AccessSum of parts is greater than the whole: inference of common genetic history of populations
Reconstructability of population history, from genetic information of extant individuals, is studied under a simulation setting. We do not address the issue of accuracy of the reconstruction algorithms: we ass...
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Chapter
Genetic History of Populations: Limits to Inference
The dispersal of the human population to all the continents of the globe is a compelling story that can possibly be unravelled from the genetic landscape of the current populations. Indeed, a grasp on this str...
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Article
Recombination networks as genetic markers in a human variation study of the Old World
We have analyzed human genetic diversity in 33 Old World populations including 23 populations obtained through Genographic Project studies. A set of 1,536 SNPs in five X chromosome regions were genotyped in 1,...
