השוואת שיטות

	ניתוח בייסיאני של שונות מספר העותקים	קריאת וריאנטים בייסיאנית
תחום	ביואינפורמטיקה	ביואינפורמטיקה
משפחה	Process / pipeline	Process / pipeline
שנת המקור	2004–2007	2010 (GATK framework); Bayesian genotyping principles preceded by Samtools/MAQ ~2008–2009
הוגה השיטה	Colella et al. (QuantiSNP); Fridlyand et al. (HMM-based Bayesian CNV)	Mark DePristo, Eric Banks, and the Broad Institute GATK team
סוג	Probabilistic genomic analysis pipeline	Probabilistic genomic inference pipeline
מקור מכונן	Colella, S., Yau, C., Taylor, J. M., Mirza, G., Butler, H., Clouston, P., Bassett, A. S., Seller, A., Holmes, C. C., & Ragoussis, J. (2007). QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Research, 35(6), 2013–2025.	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.
כינויים	Bayesian CNV analysis, Bayesian CNV calling, probabilistic CNV detection, Bayesian HMM-CNV	Bayesian genotyping, probabilistic variant calling, GATK HaplotypeCaller, Bayesian SNP/indel detection
קשורות	6	6
תקציר	Bayesian copy number variation (CNV) analysis is a probabilistic framework for detecting genomic segments where an individual's DNA copy count deviates from the diploid norm. By placing prior distributions over copy-number states and updating them with array CGH, SNP array, or sequencing read-depth evidence, the approach yields posterior probabilities for each copy-number state along the genome, providing statistically principled uncertainty quantification that frequentist segmentation methods lack.	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.