6,367 results found
    1. Epidemiology and Global Health
    2. Genetics and Genomics

    Association mapping from sequencing reads using k-mers

    Atif Rahman et al.
    Associations can be mapped using k-mer frequencies in sequencing reads without prior sequencing of a reference genome enabling detection of associations to variants of multiple types and outside of the reference.
    1. Microbiology and Infectious Disease

    Rare missense variants in the human cytosolic antibody receptor preserve antiviral function

    Jingwei Zeng et al.
    Studying the impact of natural variation on a key immune gene highlights how focusing on a single wild-type sequence overlooks that rare variants cause the most disease.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Attacks on genetic privacy via uploads to genealogical databases

    Michael D Edge, Graham Coop
    Direct-to-consumer genetic genealogy services that allow users to upload their own datasets are vulnerable to attacks on genetic privacy that exploit the structure of genetic variation.
    1. Evolutionary Biology

    Rapid evolution of the human mutation spectrum

    Kelley Harris, Jonathan K Pritchard
    Heritable mutations tend to occur within different DNA sequence contexts in different human populations, suggesting that DNA replication and repair often change in efficacy over only a few hundred generations of evolution.
    1. Plant Biology

    An N-terminal motif in NLR immune receptors is functionally conserved across distantly related plant species

    Hiroaki Adachi et al.
    The MADA motif is functionally conserved across NLRs from distantly related plants and has degenerated in sensor NLRs over evolutionary time.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Predicting geographic location from genetic variation with deep neural networks

    CJ Battey et al.
    Neural networks allow fast and accurate prediction of individual spatial locations from genotypes or sequencing data.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Haplotypes spanning centromeric regions reveal persistence of large blocks of archaic DNA

    Sasha A Langley et al.
    Genomic polymorphism across centromeric regions of humans is organized into large-scale haplotypes with great diversity, including entire Neanderthal centromeres.
    1. Genetics and Genomics

    Gene-centric functional dissection of human genetic variation uncovers regulators of hematopoiesis

    Satish K Nandakumar et al.
    A gene-centric functional screen uncovers biological mechanisms underlying genome-wide association study signals for human red blood cell traits.
    1. Genetics and Genomics

    Background selection and biased gene conversion affect more than 95% of the human genome and bias demographic inferences

    Fanny Pouyet et al.
    Background selection and GC-biased gene conversion impact the human genome to a much larger extent than previously recognized in low and high recombination rate regions, respectively.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Fine-mapping cis-regulatory variants in diverse human populations

    Ashley Tehranchi et al.
    A map of the genetic variants affecting chromatin accessibility in 1000 individuals from 10 diverse populations reveals how cis-regulatory variants impact transcription and disease.

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