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계열Process / pipelineProcess / pipeline
기원 연도2016 (Monovar; foundational single-cell SNV calling)1998–2006
창시자Hamim Zafar, Ken Chen, Nicholas Navin and colleaguesPinkel et al. (array CGH); Redon et al. (genome-wide CNV map)
유형Computational genomics pipelineGenomic structural variant detection pipeline
원전Zafar, H., Wang, Y., Nakhleh, L., Navin, N., & Chen, K. (2016). Monovar: single-nucleotide variant detection in single cells. Nature Methods, 13(6), 505–507. 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 ↗
별칭scVariant calling, single-cell SNV calling, scDNA-seq variant detection, single-cell somatic mutation callingCNV analysis, copy number variant detection, CNV calling, somatic copy number alteration analysis
관련16
요약Single-cell variant calling is a bioinformatics pipeline that identifies DNA sequence variants — single-nucleotide variants (SNVs), small insertions and deletions, and copy-number alterations — within individual cells rather than across a bulk tissue mixture. By resolving the mutational landscape cell by cell, it reveals intra-tumoral heterogeneity, clonal architecture, and somatic mutation patterns that bulk sequencing obscures. The approach is central to cancer genomics, developmental biology, and any study where cell-to-cell genetic diversity is the primary question.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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ScholarGate방법 비교: Single-cell variant calling · Copy Number Variation Analysis. 2026-06-18에 다음에서 검색함: https://scholargate.app/ko/compare