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Showing 1–18 of 18 results
Advanced filters: Author: Xinmeng Jasmine Mu Clear advanced filters

  • A description is given of the ENCODE consortium’s efforts to examine the principles of human transcriptional regulatory networks; the results are integrated with other genomic information to form a hierarchical meta-network where different levels have distinct properties.

    • Mark B. Gerstein
    • Anshul Kundaje
    • Michael Snyder
    ResearchOpen Access
    Nature
    Volume: 489, P: 91-100

  • 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

  • Levi Garraway and colleagues report the identification of somatic mutations of RNF43, which encodes an E3 ubiquitin ligase that negatively regulates Wnt signaling, in over 18% of colorectal adenocarcinomas and endometrial carcinomas.

    • Marios Giannakis
    • Eran Hodis
    • Levi A Garraway
    Research
    Nature Genetics
    Volume: 46, P: 1264-1266

  • While breast cancer incidence in the Asia Pacific region is rising, the molecular basis remains poorly characterized. Here the authors perform genomic screening of 187 Korean breast cancer patients and find differences in molecular subtype distribution, mutation pattern and prevalence, and gene expression signature when compared to TCGA.

    • Zhengyan Kan
    • Ying Ding
    • Yeon Hee Park
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-13

  • CDK4/6 inhibitors are standard-of-care treatment of breast cancer, however resistance is common. Here, the authors analyse real world multi-omics data from 400 breast cancer patients and identify bifurcated evolutionary trajectories associated with ER independent resistance.

    • Zhengyan Kan
    • Ji Wen
    • Jadwiga Bienkowska
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-19

  • 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

  • Sequencing a person's genome may reveal large DNA insertions and other structural rearrangements, but assessing their effects requires pinpointing them to nucleotide resolution. Lam et al. use a library of previously discovered rearrangements to map and analyze genetic variation.

    • Hugo Y K Lam
    • Xinmeng Jasmine Mu
    • Mark B Gerstein
    Research
    Nature Biotechnology
    Volume: 28, P: 47-55

  • Large scale sequencing study is of paramount importance to unravel the heterogeneity of colorectal cancer. Here, the authors sequenced 205 cancer genes in more than 2000 tumours and identified additional mutated driver genes, determined that mutational burden and specific mutations in TP53 are associated with survival odds.

    • Syed H. Zaidi
    • Tabitha A. Harrison
    • Ulrike Peters
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-12

  • The Structural Variation Analysis Group of The 1000 Genomes Project reports an integrated structural variation map based on discovery and genotyping of eight major structural variation classes in 2,504 unrelated individuals from across 26 populations; structural variation is compared within and between populations and its functional impact is quantified.

    • Peter H. Sudmant
    • Tobias Rausch
    • Jan O. Korbel
    ResearchOpen Access
    Nature
    Volume: 526, P: 75-81

  • Harnessing information from whole genome sequencing in 185 individuals, this study generates a high-resolution map of copy number variants. Nucleotide resolution of the map facilitates analysis of structural variant distribution and identification of the mechanisms of their origin. The study provides a resource for sequence-based association studies.

    • Ryan E. Mills
    • Klaudia Walter
    • Jan O. Korbel
    Research
    Nature
    Volume: 470, P: 59-65

  • Results for the final phase of the 1000 Genomes Project are presented including whole-genome sequencing, targeted exome sequencing, and genotyping on high-density SNP arrays for 2,504 individuals across 26 populations, providing a global reference data set to support biomedical genetics.

    • Adam Auton
    • Gonçalo R. Abecasis
    • Gonçalo R. Abecasis
    ResearchOpen Access
    Nature
    Volume: 526, P: 68-74

  • 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