Chiara Sabatti

  1. Reconstructing DNA copy number by joint segmentation of multiple sequences.

    Authors: Kenneth Lange, Zhongyang Zhang, Chiara Sabatti
    Subjects: Methodology
    Abstract

    The variation in DNA copy number carries information on the modalities of
    genome evolution and misregulation of DNA replication in cancer cells; its
    study can be helpful to localize tumor suppressor genes, distinguish different
    populations of cancerous cell, as well identify genomic variations responsible
    for disease phenotypes. A number of different high throughput technologies can
    be used to identify copy number variable sites, and the literature documents
    multiple effective algorithms.

  2. Reconstructing DNA Copy Number by Penalized Estimation and Imputation.

    Authors: Kenneth Lange, Zhongyang Zhang, Roel Ophoff, Chiara Sabatti
    Subjects: Methodology
    Abstract

    Recent advances in genomics have underscored the surprising ubiquity of DNA
    copy number variation (CNV). Fortunately, modern genotyping platforms also
    detect CNVs with fairly high reliability. Hidden Markov models and algorithms
    have played a dominant role in the interpretation of CNV data. Here we explore
    CNV reconstruction via estimation with a fused-lasso penalty as suggested by
    Tibshirani and Wang (2008).

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