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ডিফারেনশিয়াল ভ্যারিয়েন্ট কলিং×কপি নম্বর ভ্যারিয়েশন (CNV) বিশ্লেষণ×
ক্ষেত্রজৈব তথ্যবিজ্ঞানজৈব তথ্যবিজ্ঞান
পরিবারProcess / pipelineProcess / pipeline
উদ্ভবের বছর2009–2013 (field matured with NGS; seminal tools 2009–2013)1998–2006
প্রবর্তকMultiple groups; key tools: VarScan (Koboldt et al.), MuTect (Cibulskis et al.), GATK Haplotype Caller (DePristo et al.)Pinkel et al. (array CGH); Redon et al. (genome-wide CNV map)
ধরনComparative genomic analysis pipelineGenomic structural variant detection pipeline
মৌলিক উৎসKoboldt, D.C., Zhang, Q., Larson, D.E., Shen, D., McLellan, M.D., Lin, L., Miller, C.A., Mardis, E.R., Ding, L., & Wilson, R.K. (2012). VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Research, 22(3), 568–576. DOI ↗Redon, R., Ishikawa, S., Fitch, K. R., et al. (2006). Global variation in copy number in the human genome. Nature, 444(7118), 444–454. DOI ↗
অপর নামsomatic variant calling, comparative variant analysis, tumor-normal variant calling, differential SNV/indel callingCNV analysis, copy number variant detection, CNV calling, somatic copy number alteration analysis
সম্পর্কিত26
সারসংক্ষেপDifferential variant calling is a bioinformatics pipeline that identifies genetic variants — single nucleotide variants (SNVs), small insertions/deletions (indels), and structural variants — that are present in one biological sample or condition but absent (or significantly enriched) in a paired reference sample. The canonical application is tumor-versus-normal cancer genomics, where somatic mutations unique to the tumor are distinguished from germline variants shared with normal tissue. The same logic applies to comparing treated vs. untreated cell lines, evolved vs. ancestral strains, or case vs. control cohorts in population genomics.Copy number variation (CNV) analysis is a genomic pipeline for detecting regions where individuals carry fewer or more copies of a DNA segment than the reference genome. CNVs span kilobases to megabases and are a major class of structural variation implicated in cancer, neurodevelopmental disorders, and population diversity. The pipeline typically processes SNP array intensities or read-depth signals from whole-genome sequencing, applies segmentation algorithms, calls gain and loss events, and annotates them against gene and clinical databases.
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অনুসন্ধানে যান স্লাইড ডাউনলোড করুন

ScholarGateপদ্ধতির তুলনা করুন: Differential Variant Calling · Copy Number Variation Analysis. 2026-06-18 তারিখে সংগৃহীত, উৎস: https://scholargate.app/bn/compare