Distinguishing somatic and germline copy number events in cancer patient DNA hybridized to whole-genome SNP genotyping arrays.
作者： Gavin Ha , Sohrab Shah
DOI: 10.1007/978-1-62703-281-0_22
关键词:
摘要: Chromosomal aneuploidy and segmental copy number changes are common genomic aberrations in -cancer. Copy alterations (CNAs) arise from deletions, insertions, or duplications resulting -chromosomal aneuploidy. Genomes of normal cells also exhibit variable called germline variants (CNVs). CNVs the general population tend to confound interpretation predictions when attempting extract relevant driver somatic events cancer. In large studies CNAs cancer patients, it becomes necessary accurately identify separate so as prioritize candidate tumor suppressors oncogenes. We have developed a probabilistic approach, HMM-Dosage, for segmenting distinguishing separate, discrete SNP genotyping array data. outline steps computer code analysis whole-genome DNA hybridized arrays, focusing on CNA CNVs, describe combined approach HMM-Dosage inference classification changes.
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