7,258 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. 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
    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. 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. Genetics and Genomics
    2. Plant Biology

    Contesting the presence of wheat in the British Isles 8,000 years ago by assessing ancient DNA authenticity from low-coverage data

    Clemens L Weiß et al.
    A computational method to authenticate low-coverage ancient DNA experiments shows that putative wheat sequences from 8000 years old sediments are most likely not of ancient origin.
    1. Chromosomes and Gene Expression

    A gene-specific T2A-GAL4 library for Drosophila

    Pei-Tseng Lee et al.
    A library of a thousand gene-specific intronic GAL4 insertions was generated, which caused a severe loss of function, permitted the assessing of gene expression, allowed the rescue of mutated gene with UAS-cDNA constructs, and provided a tool for the reversion of mutant phenotypes in specific cells or tissues.
    1. Cancer Biology

    Prosurvival long noncoding RNA PINCR regulates a subset of p53 targets in human colorectal cancer cells by binding to Matrin 3

    Ritu Chaudhary et al.
    Functional and mechanistic analysis of p53-regulated lncRNA PINCR and its interacting RNA-binding protein Matrin 3 uncovers context-dependent regulation of specific p53 target genes during DNA damage.
    1. Genetics and Genomics
    2. Microbiology and Infectious Disease

    Neolithic and medieval virus genomes reveal complex evolution of hepatitis B

    Ben Krause-Kyora et al.
    Ancient hepatitis B virus (HBV) genomes were reconstructed from up to 7000-year-old Stone Age human skeletons, suggesting a long-time complex co-evolution with human populations.
    1. Genetics and Genomics

    Codon optimization underpins generalist parasitism in fungi

    Thomas Badet et al.
    Codon optimization through biased synonymous substitutions is a characteristic feature of the genomes of generalist fungal parasites and is associated with the colonization of multiple hosts.
    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.

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