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Showing 1–11 of 11 results
Advanced filters: Author: Sebastian Lehner Clear advanced filters

  • The flagship paper of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium describes the generation of the integrative analyses of 2,658 cancer whole genomes and their matching normal tissues across 38 tumour types, the structures for international data sharing and standardized analyses, and the main scientific findings from across the consortium studies.

    • Lauri A. Aaltonen
    • Federico Abascal
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 82-93

  • Sarcomas are morphologically heterogeneous tumours rendering their classification challenging. Here the authors developed a classifier using DNA methylation data from several soft tissue and bone sarcoma subtypes, which has the potential to improve classification for research and clinical purposes.

    • Christian Koelsche
    • Daniel Schrimpf
    • Andreas von Deimling
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-10

  • Whole-genome sequencing data from more than 2,500 cancers of 38 tumour types reveal 16 signatures that can be used to classify somatic structural variants, highlighting the diversity of genomic rearrangements in cancer.

    • Yilong Li
    • Nicola D. Roberts
    • Christian von Mering
    ResearchOpen Access
    Nature
    Volume: 578, P: 112-121

  • The molecular genetic landscape of leiomyosarcoma (LMS) is largely unknown. Here, the authors identify frequent DNA copy number alterations, whole-genome duplication, TP53 and RB1 inactivation, alternative telomere lengthening, and genomic imprints of defective DNA repair via homologous recombination as a potential therapeutic target in LMS patients.

    • Priya Chudasama
    • Sadaf S. Mughal
    • Stefan Fröhling
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-15

  • Recent work proposed a machine learning algorithm for predicting ground state properties of quantum many-body systems that outperforms any non-learning classical algorithm but requires extensive training data. Lewis et al. present an improved algorithm with exponentially reduced training data requirements.

    • Laura Lewis
    • Hsin-Yuan Huang
    • John Preskill
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-8

  • Saturation genome editing characterizes BAP1 variants and their association with disease presentation. A phenome-wide association analysis in the UK finds that BAP1 variants identified as deleterious in the study are associated with higher serum IGF-1 levels.

    • Andrew J. Waters
    • Timothy Brendler-Spaeth
    • David J. Adams
    ResearchOpen Access
    Nature Genetics
    Volume: 56, P: 1434-1445

  • Single cell genome sequencing approaches have identified somatic copy number variants (CNVs) in human neurons, but small sample sizes (<100 neurons) have limited the power to find recurrent patterns such as CNV hotspots in a single individual. Here, the authors develop an approach to map CNVs in 2097 neurons from a neurotypical individual, finding that >10% neurons contain at least one somatic CNV, and enabling deeper investigation of these events.

    • Chen Sun
    • Kunal Kathuria
    • Michael J. McConnell
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-13

  • Huppa and colleagues highlight signaling deficiencies in chimeric antigen receptor (CAR)-modified T cells that limit the efficacy of CAR T cell therapies to target tumors with diminished antigen expression.

    • Venugopal Gudipati
    • Julian Rydzek
    • Johannes B. Huppa
    Research
    Nature Immunology
    Volume: 21, P: 848-856

  • The Psychiatric GWAS Consortium Bipolar Disorder Working Group reports a large-scale genome-wide association study of 7,481 individuals with bipolar disorder with replication in 4,493 cases. The Consortium identifies a new susceptibility locus near ODZ4 and replicates a known association near CACNA1C for bipolar disorder.

    • Pamela Sklar
    • Stephan Ripke
    • Shaun M Purcell
    Research
    Nature Genetics
    Volume: 43, P: 977-983