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Showing 1–19 of 19 results
Advanced filters: Author: Benjamin Freitag Clear advanced filters
  • In this Stage 2 Registered Report, Buchanan et al. show evidence confirming the phenomenon of semantic priming across speakers of 19 diverse languages.

    • Erin M. Buchanan
    • Kelly Cuccolo
    • Savannah C. Lewis
    Research
    Nature Human Behaviour
    Volume: 10, P: 182-201
  • A large genome-wide association study of more than 5 million individuals reveals that 12,111 single-nucleotide polymorphisms account for nearly all the heritability of height attributable to common genetic variants.

    • Loïc Yengo
    • Sailaja Vedantam
    • Joel N. Hirschhorn
    ResearchOpen Access
    Nature
    Volume: 610, P: 704-712
  • Urinary albumin-to-creatinine ratio (UCAR) is associated with various clinical outcomes such as kidney disease and cardiovascular disease. Here, the authors report genome-wide meta-analysis in over 500,000 individuals and find 68 UACR loci, followed by statistical fine-mapping, gene prioritization and experimental validation in flies.

    • Alexander Teumer
    • Yong Li
    • Anna Köttgen
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-19
  • Segment Anything for Microscopy (μSAM) builds on the vision foundation model Segment Anything for high-quality image segmentation over a wide range of imaging conditions including light and electron microscopy.

    • Anwai Archit
    • Luca Freckmann
    • Constantin Pape
    ResearchOpen Access
    Nature Methods
    Volume: 22, P: 579-591
  • Whole-exome sequencing in a large autism study identifies over 100 autosomal genes that are likely to affect risk for the disorder; these genes, which show unusual evolutionary constraint against mutations, carry de novo loss-of-function mutations in over 5% of autistic subjects and many function in synaptic, transcriptional and chromatin-remodelling pathways.

    • Silvia De Rubeis
    • Xin He
    • Joseph D. Buxbaum
    Research
    Nature
    Volume: 515, P: 209-215
  • Better analytical methods are needed to extract biological meaning from genome-wide association studies (GWAS) of psychiatric disorders. Here the authors take GWAS data from over 60,000 subjects, including patients with schizophrenia, bipolar disorder and major depression, and identify common etiological pathways shared amongst them.

    • Colm O'Dushlaine
    • Lizzy Rossin
    • Gerome Breen
    Research
    Nature Neuroscience
    Volume: 18, P: 199-209
  • Cristen Willer and colleagues report genome-wide association analyses for blood lipid levels in 188,578 individuals. They identify 62 loci newly associated with blood lipid levels, refine the association signals at 12 loci and examine associations with cardiovascular and metabolic traits.

    • Cristen J Willer
    • Ellen M Schmidt
    • Gonçalo R Abecasis
    Research
    Nature Genetics
    Volume: 45, P: 1274-1283
  • Joanna Howson and colleagues perform a genome-wide association study and meta-analysis for coronary artery disease in large, trans-ancestry cohorts. They identify 15 new loci and correlate these regions with cell-type-specific gene expression and plasma protein levels to find novel pathways and potential mechanisms of disease.

    • Joanna M M Howson
    • Wei Zhao
    • Danish Saleheen
    Research
    Nature Genetics
    Volume: 49, P: 1113-1119
  • Naomi Wray and colleagues report an analysis of genome-wide association data sets from the Psychiatric Genomics Consortium for five psychiatric disorders. They find that common variation explains 17–29% of the variance in liability and provide further support for a shared genetic etiology for these related psychiatric disorders.

    • S Hong Lee
    • Stephan Ripke
    • Naomi R Wray
    Research
    Nature Genetics
    Volume: 45, P: 984-994
  • Elise Robinson and colleagues present the polygenic transmission disequilibrium test (pTDT) for evaluating transmission of polygenic risk in family-based study designs. The authors apply pTDT to a cohort of autism spectrum disorder (ASD) families and find that common polygenic variation acts additively with de novo variants to contribute to ASD risk.

    • Daniel J Weiner
    • Emilie M Wigdor
    • Elise B Robinson
    Research
    Nature Genetics
    Volume: 49, P: 978-985
  • Autism is a highly heritable neurodevelopmental disorder, and yet few specific susceptibility genes have been identified to date. A linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms is now described in a common set of 1,031 multiplex autism families. The linkage regions identified provide targets for rare variation screening whereas the discovery of a single novel association, SEMA5A, demonstrates the action of common variants.

    • Lauren A. Weiss
    • Dan E. Arking
    • Leena Peltonen
    Research
    Nature
    Volume: 461, P: 802-808