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  3. Whole-genome sequencing
  4. Structural variant detection
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A hidden Markov model (HMM) for predicting somatic loss of heterozygosity and allelic imbalance in whole tumour genome sequencing data.

Software type:
Command line interface
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Unix/Linux, Mac OS, Windows
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  • (Ha et al., 2012) Integrative analysis of genome-wide loss of heterozygosity and monoallelic expression at nucleotide resolution reveals disrupted pathways in triple-negative breast cancer. Genome research.
    PMID: 22637570
  • (Lin et al., 2014) Making the difference: integrating structural variation detection tools. Briefings in bioinformatics.
    PMID: 25504367

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