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Llamada de variantes bayesiana×Análisis de variantes a nivel de célula única×
CampoBioinformáticaBioinformática
FamiliaProcess / pipelineProcess / pipeline
Año de origen2010 (GATK framework); Bayesian genotyping principles preceded by Samtools/MAQ ~2008–20092016 (Monovar; foundational single-cell SNV calling)
Autor originalMark DePristo, Eric Banks, and the Broad Institute GATK teamHamim Zafar, Ken Chen, Nicholas Navin and colleagues
TipoProbabilistic genomic inference pipelineComputational genomics pipeline
Fuente seminalMcKenna, 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 ↗
AliasBayesian genotyping, probabilistic variant calling, GATK HaplotypeCaller, Bayesian SNP/indel detectionscVariant calling, single-cell SNV calling, scDNA-seq variant detection, single-cell somatic mutation calling
Relacionados61
ResumenBayesian 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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ScholarGateComparar métodos: Bayesian Variant Calling · Single-cell variant calling. Recuperado el 2026-06-17 de https://scholargate.app/es/compare