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| Anomenament de pics ChIP-seq bayesià× | Anomenament de variants× | |
|---|---|---|
| Camp | Bioinformàtica | Bioinformàtica |
| Família | Process / pipeline | Process / pipeline |
| Any d'origen≠ | 2008–2009 | 2009–2010 (modern high-throughput era) |
| Autor original≠ | Spyrou et al. (BayesPeak, 2009); broader Bayesian ChIP-seq framework developed across multiple groups ~2008–2012 | Li et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010) |
| Tipus≠ | Probabilistic signal detection pipeline | Computational genomics pipeline |
| Font seminal≠ | Zhang, Y., Liu, T., Meyer, C. A., Eeckhoute, J., Johnson, D. S., Bernstein, B. E., Nusbaum, C., Myers, R. M., Brown, M., Li, W., & Liu, X. S. (2008). Model-based analysis of ChIP-Seq (MACS). Genome Biology, 9(9), R137. DOI ↗ | 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 ↗ |
| Àlies | Bayesian ChIP-seq analysis, probabilistic peak detection, Bayesian peak caller, ChIP-seq Bayesian enrichment calling | SNP calling, genotyping from sequencing, mutation detection, variant detection |
| Relacionats | 6 | 6 |
| Resum≠ | Bayesian ChIP-seq peak calling applies probabilistic models — typically Poisson, negative binomial, or hidden Markov models with Bayesian inference — to detect genomic regions enriched for a protein of interest in chromatin immunoprecipitation followed by sequencing experiments. By explicitly modelling read-count noise and incorporating prior distributions, Bayesian callers yield posterior probabilities of enrichment rather than simple p-values, providing a principled framework for uncertainty quantification across the genome. | Variant calling is the computational process of identifying positions in a sequenced genome that differ from a reference sequence — including single nucleotide polymorphisms (SNPs), small insertions and deletions (indels), and structural variants. It transforms aligned sequencing reads into an interpretable catalogue of genetic differences, forming the foundation for population genetics, disease-gene discovery, and clinical genomics applications. |
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