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| 베이지안 변이 호출× | 단일 세포 변이 호출× | |
|---|---|---|
| 분야 | 생물정보학 | 생물정보학 |
| 계열 | Process / pipeline | Process / pipeline |
| 기원 연도≠ | 2010 (GATK framework); Bayesian genotyping principles preceded by Samtools/MAQ ~2008–2009 | 2016 (Monovar; foundational single-cell SNV calling) |
| 창시자≠ | Mark DePristo, Eric Banks, and the Broad Institute GATK team | Hamim Zafar, Ken Chen, Nicholas Navin and colleagues |
| 유형≠ | Probabilistic genomic inference pipeline | Computational genomics pipeline |
| 원전≠ | McKenna, A., Hanna, M., Banks, E., Sivachenko, A., Cibulskis, K., Kernytsky, A., ... & DePristo, M. A. (2010). The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Research, 20(9), 1297–1303. DOI ↗ | Zafar, 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 ↗ |
| 별칭 | Bayesian genotyping, probabilistic variant calling, GATK HaplotypeCaller, Bayesian SNP/indel detection | scVariant calling, single-cell SNV calling, scDNA-seq variant detection, single-cell somatic mutation calling |
| 관련≠ | 6 | 1 |
| 요약≠ | Bayesian variant calling is a computational pipeline that uses probabilistic inference to identify single-nucleotide polymorphisms (SNPs), insertions, and deletions in a genome by treating sequencing data as evidence and computing posterior probabilities over candidate genotypes. Unlike deterministic threshold-based callers, Bayesian approaches explicitly model sequencing error, mapping uncertainty, and prior genotype frequencies to produce calibrated genotype likelihoods that can be used for downstream filtering and association testing. | Single-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. |
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