81 results found
    1. Cancer Biology
    2. Genetics and Genomics

    Multi-syndrome, multi-gene risk modeling for individuals with a family history of cancer with the novel R package PanelPRO

    Gavin Lee et al.
    A comprehensive package for pedigree-based risk modeling, with a highly optimized computational back-end, extends existing models beyond syndrome-specific approaches and incorporates data from panel studies by allowing for an arbitrary number of gene and syndrome associations.
    1. Evolutionary Biology

    Moderate nucleotide diversity in the Atlantic herring is associated with a low mutation rate

    Chungang Feng et al.
    The Atlantic herring has the lowest mutation rate yet estimated in a vertebrate species and this partially explains its moderate nucleotide diversity given the large population size.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    KRAB-zinc finger protein gene expansion in response to active retrotransposons in the murine lineage

    Gernot Wolf et al.
    Unbiased ChIP-seq screens and genetic knockouts of large Kruppel associated box zinc finger protein (KRAB-ZFP) clusters reveal that evolutionarily young KRAB-ZFPs play a redundant role in retrotransposon restriction in mice.
    1. Developmental Biology
    2. Evolutionary Biology

    An integrative genomic analysis of the Longshanks selection experiment for longer limbs in mice

    João PL Castro et al.
    Genome sequencing of mice selected for longer limbs reveals that rapid selection response is due to both discrete loci and polygenic adaptation.
    1. Genetics and Genomics

    Determining the genetic basis of anthracycline-cardiotoxicity by molecular response QTL mapping in induced cardiomyocytes

    David A Knowles et al.
    Genetic variants that modulate transcriptomic response to doxorubicin in human iPSC-derived cardiomyocytes are predictive of cardiac damage and in vivo sensitivity to anthracycline cardiotoxicity.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Introgression of regulatory alleles and a missense coding mutation drive plumage pattern diversity in the rock pigeon

    Anna I Vickrey et al.
    Different kinds of molecular changes at one genetic locus control different feather pigmentation patterns, and the darkest patterns resulted from hybridization with another species.
    1. Genetics and Genomics

    Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation

    Thomas A Sasani et al.
    Rates of germline mutation accumulation are highly variable across families of similar genetic ancestry, and post-zygotic mosaicism is a substantial source of de novo mutations.
    1. Medicine
    2. Genetics and Genomics

    Genomic variations of the mevalonate pathway in porokeratosis

    Zhenghua Zhang et al.
    Mutations in four members of the mevalonate pathway have been identified from 134 index porokeratosis patients, including some that correlate with specific clinical manifestations of the disease.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Non-crossover gene conversions show strong GC bias and unexpected clustering in humans

    Amy L Williams et al.
    In humans, non-crossover gene conversion events transmit GC alleles in 68% of cases and exhibit a complex pattern of multiple disconnected tracts clustered within 20–30 kilobase intervals.
    1. Genetics and Genomics
    2. Medicine

    Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

    Gillian Morven Belbin et al.
    A health-system embedding method for genomic discovery and clinical characterization of disease highlights the importance of documenting a wider spectrum of genetic disorders in diverse populations.

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