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Showing 1–22 of 22 results
Advanced filters: Author: Sharon R. Grossman Clear advanced filters

  • De novo and inherited dominant variants in genes encoding U4 and U6 small nuclear RNAs are identified in individuals with retinitis pigmentosa. The variants cluster at nucleotide positions distinct from those implicated in neurodevelopmental disorders.

    • Mathieu Quinodoz
    • Kim Rodenburg
    • Carlo Rivolta
    ResearchOpen Access
    Nature Genetics
    Volume: 58, P: 169-179

  • A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.

    • Xinhe Zhang
    • Jakob Grove
    • Varun Warrier
    ResearchOpen Access
    Nature
    Volume: 646, P: 1146-1155

  • Tau pathology drives neuronal dysfunction in 4- repeat tauopathies. Here, the authors combine tau-PET, resting-state fMRI and histopathology data, to show that brain connectivity is associated with tau deposition patterns in 4-repeat tauopathies.

    • Nicolai Franzmeier
    • Matthias Brendel
    • Michael Ewers
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-18

  • A new high-throughput assay applied to 1,000 enhancers and 1,000 promoters in human cells reveals how different classes of enhancers and promoters control RNA expression.

    • Drew T. Bergman
    • Thouis R. Jones
    • Jesse M. Engreitz
    Research
    Nature
    Volume: 607, P: 176-184

  • Supramolecular assemblies achieve nontrivial structures but there is no general framework to link their formation to molecular properties. Here the authors propose a model that relates molecular geometry and interactions to nanoribbon formation, validated by cryo-electron microscopy.

    • Mingming Zhang
    • Doron Grossman
    • Eran Sharon
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-7

  • In Alzheimer’s disease (AD) tau and neurodegeneration have complex regional relationships. Here, the authors show neuronal hypometabolism discordant with tau burden defines functional resilience or susceptibility to Alzheimer’s pathology via limbic/cortical axes. Susceptible groups have faster cognitive decline and evidence of non-Alzheimer’s pathologies.

    • Michael Tran Duong
    • Sandhitsu R. Das
    • Ilya M. Nasrallah
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-15

  • The National Cancer Institute (NCI) Genomic Data Commons (GDC) contains more than 2.9 petabytes of genomic and associated clinical data from more than 60 NCI-funded and other contributed cancer genomics research projects. The GDC consists of five applications over a common data model and a common application programming interface.

    • Allison P. Heath
    • Vincent Ferretti
    • Robert L. Grossman
    Comments & Opinion
    Nature Genetics
    Volume: 53, P: 257-262

  • 1000 Genomes imputation can increase the power of genome-wide association studies to detect genetic variants associated with human traits and diseases. Here, the authors develop a method to integrate and analyse low-coverage sequence data and SNP array data, and show that it improves imputation performance.

    • Olivier Delaneau
    • Jonathan Marchini
    • Leena Peltonenz
    Research
    Nature Communications
    Volume: 5, P: 1-9

  • Here, the analysis of 'HapMap 3' is reported — a public data set of genomic variants in human populations. The resource integrates common and rare single nucleotide polymorphisms (SNPs) and copy number polymorphisms (CNPs) from 11 global populations, providing insights into population-specific differences among variants. It also demonstrates the feasibility of imputing newly discovered rare SNPs and CNPs.

    • David M. Altshuler
    • Richard A. Gibbs
    • Jean E. McEwen
    Research
    Nature
    Volume: 467, P: 52-58

  • The goal of the 1000 Genomes Project is to provide in-depth information on variation in human genome sequences. In the pilot phase reported here, different strategies for genome-wide sequencing, using high-throughput sequencing platforms, were developed and compared. The resulting data set includes more than 95% of the currently accessible variants found in any individual, and can be used to inform association and functional studies.

    • Richard M. Durbin
    • David Altshuler (Co-Chair)
    • Gil A. McVean
    ResearchOpen Access
    Nature
    Volume: 467, P: 1061-1073

  • This report from the 1000 Genomes Project describes the genomes of 1,092 individuals from 14 human populations, providing a resource for common and low-frequency variant analysis in individuals from diverse populations; hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites, can be found in each individual.

    • Gil A. McVean
    • David M. Altshuler (Co-Chair)
    • Gil A. McVean
    ResearchOpen Access
    Nature
    Volume: 491, P: 56-65

  • Attempts to reproduce the computational steps described in published omics research often fail. This review provides guidelines for the packaging and containerization of software so that readers can use the exact programs used in published work.

    • Mohammed Alser
    • Brendan Lawlor
    • Serghei Mangul
    Reviews
    Nature Protocols
    Volume: 19, P: 2529-2539

  • This Review describes progress in the study of human genetics, in which rapid advances in technology, foundational genomic resources and analytical tools have contributed to the understanding of the mechanisms responsible for many rare and common diseases and to preventative and therapeutic strategies for many of these conditions.

    • Melina Claussnitzer
    • Judy H. Cho
    • Mark I. McCarthy
    Reviews
    Nature
    Volume: 577, P: 179-189