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Showing 1–19 of 19 results
Advanced filters: Author: Tim J Fennell Clear advanced filters

  • Analysing camera-trap data of 163 mammal species before and after the onset of COVID-19 lockdowns, the authors show that responses to human activity are dependent on the degree to which the landscape is modified by humans, with carnivores being especially sensitive.

    • A. Cole Burton
    • Christopher Beirne
    • Roland Kays
    ResearchOpen Access
    Nature Ecology & Evolution
    Volume: 8, P: 924-935

  • Circulating tumour DNA profiling in early-stage non-small-cell lung cancer can be used to track single-nucleotide variants in plasma to predict lung cancer relapse and identify tumour subclones involved in the metastatic process.

    • Christopher Abbosh
    • Nicolai J. Birkbak
    • Charles Swanton
    Research
    Nature
    Volume: 545, P: 446-451

  • 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

  • Mark Daly, Manuel Rivas and colleagues used next-generation sequencing to study the coding exons of 56 genes from regions previously associated with Crohn's disease. Follow-up analyses in independent case-control series confirmed association of many newly discovered rare variants with disease risk.

    • Manuel A Rivas
    • Mélissa Beaudoin
    • Mark J Daly
    Research
    Nature Genetics
    Volume: 43, P: 1066-1073

  • Parallelized analysis in clinical genomics can lead to sample or data mislabelling, and could have serious downstream consequences. Here the authors present a tool to quantify sample genetic relatedness and detect such mistakes, and apply it to thousands of datasets from the ENCODE consortium.

    • Nauman Javed
    • Yossi Farjoun
    • Noam Shoresh
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-8

  • Exome sequence analysis of more than 5,000 schizophrenia cases and controls identifies a polygenic burden primarily arising from rare, disruptive mutations distributed across many genes, among which are those encoding voltage-gated calcium ion channels and the signalling complex formed by the ARC protein of the postsynaptic density; as in autism, mutations were also found in homologues of known targets of the fragile X mental retardation protein.

    • Shaun M. Purcell
    • Jennifer L. Moran
    • Pamela Sklar
    Research
    Nature
    Volume: 506, P: 185-190

  • Sequencing data from two large-scale studies show that most of the genetic variation influencing the risk of type 2 diabetes involves common alleles and is found in regions previously identified by genome-wide association studies, clarifying the genetic architecture of this disease.

    • Christian Fuchsberger
    • Jason Flannick
    • Mark I. McCarthy
    Research
    Nature
    Volume: 536, P: 41-47

  • David Altshuler and colleagues report genotyping or sequencing of ∼150,000 individuals from several population-based cohorts, identifying 12 rare protein-truncating variants in SLC30A8, encoding a pancreatic islet zinc transporter. Carriers of these rare protein-truncating variants in SLC30A8 show reduced risk of type 2 diabetes and reduced glucose levels.

    • Jason Flannick
    • Gudmar Thorleifsson
    • David Altshuler
    Research
    Nature Genetics
    Volume: 46, P: 357-363

  • Sequencing of over 600 genes in a large collection of lung adenocarcinoma samples provides an overview of somatic mutations and signalling pathways altered in cancer genes in this tumour type.

    • Li Ding
    • Gad Getz
    • Richard K. Wilson
    Research
    Nature
    Volume: 455, P: 1069-1075

  • The heterogeneity of androgen receptor (AR) gene alterations across metastases in prostate cancer remains unresolved. Here, the authors characterise AR genomic complexity across spatially separated lethal metastases from 10 prostate cancer patients and investigate how AR alterations evolve.

    • A. M. Mahedi Hasan
    • Paolo Cremaschi
    • Gerhardt Attard
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-16

  • With a comprehensive analysis of sequencing data, DNA copy number, gene expression and DNA methylation in a large number of human glioblastomas, The Cancer Genome Atlas project initiative provides a broad overview of the genes and pathways that are altered in this cancer type.

    • Roger McLendon
    • Allan Friedman
    • Elizabeth Thomson
    Research
    Nature
    Volume: 455, P: 1061-1068

  • Exome sequencing of 175 autism spectrum disorder parent–child trios reveals that few de novo point mutations have a role in autism spectrum disorder and those that do are distributed across many genes and are incompletely penetrant, further supporting extreme genetic heterogeneity of this spectrum disorder.

    • Benjamin M. Neale
    • Yan Kou
    • Mark J. Daly
    Research
    Nature
    Volume: 485, P: 242-245

  • Mark DePristo and colleagues report an analytical framework to discover and genotype variation using whole exome and genome resequencing data from next-generation sequencing technologies. They apply these methods to low-pass population sequencing data from the 1000 Genomes Project.

    • Mark A DePristo
    • Eric Banks
    • Mark J Daly
    Research
    Nature Genetics
    Volume: 43, P: 491-498

  • Samuel Singer and colleagues report an integrative genomic analysis of soft-tissue sarcomas. They survey sequence, copy number and mRNA expression in 207 individuals diagnosed with one of seven major high-grade sarcoma subtypes, and highlight subtype-specific alternations.

    • Jordi Barretina
    • Barry S Taylor
    • Samuel Singer
    Research
    Nature Genetics
    Volume: 42, P: 715-721