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Showing 1–4 of 4 results
Advanced filters: Author: Sim Ngak Leng Clear advanced filters

  • Detection of somatic mutations in cell-free DNA is challenging due to low variant allele frequencies and extensive DNA fragmentation. Here, the authors use longitudinal samples from colorectal and breast cancer patients to clarify performance limits of current approaches and support application of cfDNA analyses in cancer liquid biopsies.

    • Hanaé Carrié
    • Ngak Leng Sim
    • Anders Skanderup
    ResearchOpen Access
    Nature Communications
    Volume: 17, P: 1-13

  • Deep learning could be applied to the challenge of somatic variant calling in cancer by making use of large-scale genomic data. Here, the authors develop VarNet, a weakly supervised deep learning model for somatic variant calling in cancer with robust performance across multiple cancer genomics datasets.

    • Kiran Krishnamachari
    • Dylan Lu
    • Anders Jacobsen Skanderup
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-8

  • This is an update to the SIFT protocol published in 2009, which uses SIFT 4G to provide SIFT scores from the genomes of more than 200 organisms.

    • Robert Vaser
    • Swarnaseetha Adusumalli
    • Pauline C Ng
    Protocols
    Nature Protocols
    Volume: 11, P: 1-9