965 results found
    1. Evolutionary Biology
    2. Genetics and Genomics

    A variant-centric perspective on geographic patterns of human allele frequency variation

    Arjun Biddanda, Daniel P Rice, John Novembre
    New tools for visualizing population genetic data can provide a more direct understanding of levels of differentiation among human populations.
    1. Genetics and Genomics

    Extensive impact of low-frequency variants on the phenotypic landscape at population-scale

    Téo Fournier, Omar Abou Saada ... Joseph Schacherer
    Genome-wide association studies on a diallel yeast panel revealed the relevance of low-frequency variants on the phenotypic diversity and consequently on the missing heritability at a population-scale.
    1. Cell Biology

    A missense in HSF2BP causing primary ovarian insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

    Natalia Felipe-Medina, Sandrine Caburet ... Alberto M Pendás
    Genetic and biochemical analysis reveal a variant in HSF2BP causing POI and C19ORF57/BRME1 as an interactor and stabilizer of HSF2BP by forming a complex with BRCA2, RAD51, RPA and PALB2.
    1. Epidemiology and Global Health

    Estimating the burden of α-thalassaemia in Thailand using a comprehensive prevalence database for Southeast Asia

    Carinna Hockham, Supachai Ekwattanakit ... Frédéric B Piel
    The incorporation of as yet underused local epidemiological data on α-thalassaemia in Southeast Asia within a geostatistical model suggests that the burden of severe α-thalassaemia forms may have been underestimated.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Population scale mapping of transposable element diversity reveals links to gene regulation and epigenomic variation

    Tim Stuart, Steven R Eichten ... Ryan Lister
    Fine mapping of transposable element presence/absence variation amongst 216 Arabidopsis strains uncovers widespread novel genetic diversity that underlies differences in transcription and DNA methylation patterns.
    1. Epidemiology and Global Health
    2. Microbiology and Infectious Disease

    In-host population dynamics of Mycobacterium tuberculosis complex during active disease

    Roger Vargas, Luca Freschi ... Maha Reda Farhat
    Bulk whole genome sequencing data can be used to study the genetic variation present in pathogenic bacterial populations over the time-course of a single infection within a host.
    1. Cell Biology
    2. Evolutionary Biology

    Genetic diversity of CHC22 clathrin impacts its function in glucose metabolism

    Matteo Fumagalli, Stephane M Camus ... Frances M Brodsky
    Natural selection shaped CHC22 clathrin genetic variation in humans with different diets and potentially influenced the human insulin response.
    1. Evolutionary Biology
    2. Microbiology and Infectious Disease

    Stochastic processes constrain the within and between host evolution of influenza virus

    John T McCrone, Robert J Woods ... Adam S Lauring
    An analysis of influenza viruses from naturally infected people suggests a tight transmission bottleneck and little positive selection within hosts.
    1. Epidemiology and Global Health
    2. Microbiology and Infectious Disease

    Evolutionary genomics of epidemic visceral leishmaniasis in the Indian subcontinent

    Hideo Imamura, Tim Downing ... James A Cotton
    Genome sequencing reveals the evolution and epidemiology of Leishmania donovani in the Indian subcontinent, where epidemics have caused up to 30,000 deaths per year.
    1. Evolutionary Biology
    2. Microbiology and Infectious Disease

    A large effective population size for established within-host influenza virus infection

    Casper K Lumby, Lei Zhao ... Christopher JR Illingworth
    Once an influenza infection is established, selection acts efficiently in favouring fitter viral genotypes, its effects being limited only by the short length of a typical infection.

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