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    1. Medicine
    2. Neuroscience

    scAAVengr, a transcriptome-based pipeline for quantitative ranking of engineered AAVs with single-cell resolution

    Bilge E Öztürk, Molly E Johnson ... Leah C Byrne
    A transcriptome-based pipeline (scAAVengr) quantifies and ranks competing adeno-associated viral vectors in primate retina, and mouse brain, heart, and liver, simultaneously and across all cell types, in the same animal, with single-cell resolution.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Dynamic effects of genetic variation on gene expression revealed following hypoxic stress in cardiomyocytes

    Michelle C Ward, Nicholas E Banovich ... Yoav Gilad
    Cellular stress in a disease-relevant cell type uncovers novel genetic effects on gene expression, which is likely relevant for disease.
    1. Developmental Biology
    2. Genetics and Genomics

    Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves

    Melanie MY Chan, Omid Sadeghi-Alavijeh ... Daniel P Gale
    A genome-wide association study using whole-genome sequencing data identifies the first known susceptibility genes for posterior urethral valves, the most common cause of kidney failure in boys, implicating the transcription factor TBX5 and planar cell polarity gene PTK7.
    1. Genetics and Genomics

    3D genomic features across >50 diverse cell types reveal insights into the genomic architecture of childhood obesity

    Khanh B Trang, Matthew C Pahl ... Struan FA Grant
    Integration of GWAS summary statistics with extensive 3D genomic datasets generated in a myriad of different cell types provides genomic insights into pediatric obesity pathogenesis.
    1. Cancer Biology
    2. Computational and Systems Biology

    Simultaneous enumeration of cancer and immune cell types from bulk tumor gene expression data

    Julien Racle, Kaat de Jonge ... David Gfeller
    A novel method predicts cancer and immune cell types from bulk tumor gene expression data with the ability to consider uncharacterized and possibly highly variable cell types, which is validated in human genome.
    1. Computational and Systems Biology
    2. Genetics and Genomics

    Imputation of 3D genome structure by genetic–epigenetic interaction modeling in mice

    Lauren Kuffler, Daniel A Skelly ... Gregory W Carter
    Genetic variants interact with open chromatin to alter gene expression within topologically associated domains of DNA in outbred mice.
    1. Evolutionary Biology
    2. Genetics and Genomics

    Epistasis between mutator alleles contributes to germline mutation spectrum variability in laboratory mice

    Thomas A Sasani, Aaron R Quinlan, Kelley Harris
    Germline mutation rates in mice are shaped by two mutator alleles that interact epistatically, showing that DNA repair defects that map to different loci can have snowballing effects.
    1. Cell Biology
    2. Chromosomes and Gene Expression

    Imaging analysis of six human histone H1 variants reveals universal enrichment of H1.2, H1.3, and H1.5 at the nuclear periphery and nucleolar H1X presence

    Monica Salinas-Pena, Elena Rebollo, Albert Jordan
    Imaging analysis confirms ChIP-Seq data on the distinct genomic distribution of histone H1 variants in AT-rich, nuclear peripheral regions (H1.2, H1.3, H1.5, H1.0) or GC-rich, throughout the nucleus (H1.4, H1X).
    1. Biochemistry and Chemical Biology
    2. Structural Biology and Molecular Biophysics

    Uncovering the basis of protein-protein interaction specificity with a combinatorially complete library

    Thuy-Lan V Lite, Robert A Grant ... Michael T Laub
    A generalizable approach to understanding the logic of molecular recognition reveals the contributions of individual residues to the specificity of protein-protein interactions.