Advanced search

Filter By:

Journal Check one or more journals to show results from those journals only.

Choose more journals

Article type Check one or more article types to show results from those article types only.
Subject Check one or more subjects to show results from those subjects only.
Date Choose a date option to show results from those dates only.

Custom date range

Clear all filters
Sort by:
Showing 1–12 of 12 results
Advanced filters: Author: Christopher DeBoever Clear advanced filters

  • Analysis of iPSC-derived cardiomyocytes identifies variants associated with allele-specific effects on NKX2-5 binding. Fine-mapping and functional studies suggest that such variants underlie cardiac-specific expression quantitative trait loci and associations with electrocardiographic traits.

    • Paola Benaglio
    • Agnieszka D’Antonio-Chronowska
    • Kelly A. Frazer
    Research
    Nature Genetics
    Volume: 51, P: 1506-1517

  • Protein-truncating variants (PTVs) are predicted to significantly affect a gene’s function and, thus, human traits. Here, DeBoever et al. systematically analyze PTVs in more than 300,000 individuals across 135 phenotypes and identify 27 associations between PTVs and medical conditions.

    • Christopher DeBoever
    • Yosuke Tanigawa
    • Manuel A. Rivas
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-10

  • A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

    • Mari E. K. Niemi
    • Juha Karjalainen
    • Chloe Donohue
    ResearchOpen Access
    Nature
    Volume: 600, P: 472-477

  • There is a genetic component to the risk of severe COVID-19, but the genetic effects are difficult to separate from social constructs that covary with genetic ancestry. To address this, the authors identify determinants of COVID-19 severity using admixture mapping, viral phylodynamics, and host immune and metagenomic sequencing.

    • Victoria N. Parikh
    • Alexander G. Ioannidis
    • Euan A. Ashley
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-10

  • Genetic variation associated with gene expression changes has mostly been studied in the context of single nucleotide variants. Here, Jakubosky et al. report eQTL analysis of structural variants and short tandem repeats and find properties, such as length of variation, that affect the association.

    • David Jakubosky
    • Matteo D’Antonio
    • Kelly A. Frazer
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-15

  • While many pleiotropic genetic loci have been identified, how they contribute to phenotypes across traits and diseases is unclear. Here, the authors propose decomposition of genetic associations (DeGAs), which uses singular value decomposition, to characterize the underlying latent structure of genetic associations of 2,138 phenotypes.

    • Yosuke Tanigawa
    • Jiehan Li
    • Manuel A. Rivas
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-14

  • The complexity of structural variation (SV) and short tandem repeats (STRs) makes it necessary to apply different calling and filtering strategies to sequencing datasets. Here, Jakubosky et al. report a comprehensive SV and STR callset from whole-genome sequencing of 477 individuals from iPSCORE and HipSci using five algorithms.

    • David Jakubosky
    • Erin N. Smith
    • Kelly A. Frazer
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-15

  • Cancer driver mutations can occur within noncoding genomic sequences. Here, the authors develop a statistical approach to identify candidate noncoding driver mutations in DNase I hypersensitive sites in breast cancer and experimentally demonstrate they are regulatory elements of known cancer genes.

    • Matteo D′Antonio
    • Donate Weghorn
    • Kelly A Frazer
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-16

  • Stem cells exist in vitro in a spectrum of interconvertible pluripotent states. Here, authors show that pluripotency and self-renewal processes have a high level of regulatory complexity and suggest that genetic factors contribute to cell state transitions in human iPSC lines.

    • Timothy D. Arthur
    • Jennifer P. Nguyen
    • Kelly A. Frazer
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-19

  • The mechanisms underlying many genetic variants associated with human traits are often unknown. Here, the authors identify the developmental stage-, organ-, tissue- and cell type-specific associations between genetic variation and gene expression in cardiac tissues, and describe how these associations affect complex cardiac traits and disease.

    • Matteo D’Antonio
    • Jennifer P. Nguyen
    • Kelly A. Frazer
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-18