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    1. Chromosomes and Gene Expression
    2. Human Biology and Medicine

    A promoter interaction map for cardiovascular disease genetics

    Lindsey E Montefiori et al.
    Promoter capture Hi-C in human iPSCs and iPSC-derived cardiomyocytes provides a platform to interrogate gene-regulatory dynamics of cardiomyocyte differentiation and directly links thousands of cardiovascular disease risk loci to hundreds of distal target genes.
    1. Developmental Biology
    2. Genetics and Genomics

    Extensive intraspecies cryptic variation in an ancient embryonic gene regulatory network

    Yamila N Torres Cleuren et al.
    Quantitative genetic analyses reveal remarkably broad genetic variation underlies the requirement for two critical regulatory inputs into a core embryonic gene regulatory network within one animal species.
    1. Genetics and Genomics

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

    Téo Fournier et al.
    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. Computational and Systems Biology
    2. Human Biology and Medicine

    The MR-Base platform supports systematic causal inference across the human phenome

    Gibran Hemani et al.
    Compiling public datasets into a single, centralised repository and linking directly to analytical software completely transforms the scale and scope of causal inference across the phenome.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Reduced signal for polygenic adaptation of height in UK Biobank

    Jeremy J Berg et al.
    Many prior signals of polygenic adaptation on human height do not replicate in the UK Biobank.
    1. Genetics and Genomics
    2. Microbiology and Infectious Disease

    Genome-wide identification of lineage and locus specific variation associated with pneumococcal carriage duration

    John A Lees et al.
    Sequence changes in the pneumococcal genome explain most of the variability in duration of asymptomatic carriage with serotype, antibiotic resistance and prophage accounting for the largest effects.
    1. Ecology

    Stone Tool Use: Monkeys overharvest shellfish

    George H Perry, Brian F Codding
    The use of stone tools by macaques in Thailand has reduced the size and population density of coastal shellfish; previously it was thought that tool-assisted overharvesting effects resulted uniquely from human activity.
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    1. Human Biology and Medicine

    Research: Adequate statistical power in clinical trials is associated with the combination of a male first author and a female last author

    Willem M Otte et al.
    An analysis of 31,873 clinical trials shows that adequate statistical power was most often present in trials with a male first author and a female last author.
    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.
    1. Genetics and Genomics
    2. Human Biology and 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.