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Working Group:

Mutation detection in complex mixtures

Detecting mutations using next generation sequencing data can be particularly difficult when the sample being sequenced is actually a complex mixture of samples with differing genotypes.  For example, when sequencing a tumor sample, not all biopsied cells will necessarily be tumor cells, and therefore, somatic mutations may only be present in a subset of sequenced cells, leading to a complex mixture of genotypes.  Standard approaches to genotype calling do not appropriately account for this heterogeneity.  We are working on methods for detecting mutations in such samples with applications in cancer, epilepsy, and non-invasive prenatal testing.

Topics –

  • Calling somatic/post-zygotic mutations from next generation sequence data
  • Non-invasive mutation detection via next generation sequencing of cell free DNA

Members

  • Andrew S. Allen, PhD

    Director
    Professor of Biostatistics & Bioinformatics

  • Hang Dai

    Hang Dai, PhD

    Postdoctoral Associate in Biostatistics & Bioinformatics

  • Raluca Gordân, PhD

    Associate Professor of Biostatistics & Bioinformatics

  • Joshua Granek, PhD

    Assistant Professor of Biostatistics & Bioinformatics

  • Jeremy Gresham, MSc

    Bioinformatician with
    Duke Cancer Institute

  • Grant Guan

    Grant Guan, PhD

    Assistant Professor of Biostatistics & Bioinformatics

  • Yi-Ju Li, PhD

    Associate Professor of Biostatistics & Bioinformatics

  • Jiaxing Lin, PhD

    Bioinformatician with
    Duke Cancer Institute

  • Gary Lipton

    Gary Lipton, PhD

    Bioinformatician with
    Duke Cancer Institute

  • Douglas Marchuk, PhD

    James B. Duke Professor of Molecular Genetics and Microbiology

  • Alex Ochoa

    Alex Ochoa, PhD

    Assistant Professor of Biostatistics & Bioinformatics

  • Kouros Owzar, PhD

    Professor of Biostatistics & Bioinformatics

  • John Pura

    John Pura, MB

    PhD Student

  • Wenjing Qi, PhD

    Postdoctoral Associate in Biostatistics & Bioinformatics

  • Alex Sibley, MB

    Bioinformatician with
    Duke Cancer Institute

  • Jichun Xie, PhD

    Associate Professor of Biostatistics & Bioinformatics

  • Hanli Xu

    Hanli Xu, PhD

    Postdoctoral Associate in Biostatistics & Bioinformatics

  • Siyun Yang, MB

    PhD Student

  • Dadong Zhang, MB

    Bioinformatician with
    Duke Cancer Institute