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Variant Calling×Aliniere de secvențe×
DomeniuBioinformaticăBioinformatică
FamilieProcess / pipelineProcess / pipeline
Anul apariției2009–2010 (modern high-throughput era)1970 (global alignment); 1981 (local alignment)
Autorul originalLi et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010)Saul B. Needleman & Christian D. Wunsch (global); Temple F. Smith & Michael S. Waterman (local)
TipComputational genomics pipelineComputational sequence analysis technique
Sursa seminalăMcKenna, 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 ↗Needleman, S. B., & Wunsch, C. D. (1970). A general method applicable to the search for similarities in the amino acid sequence of two proteins. Journal of Molecular Biology, 48(3), 443–453. DOI ↗
Denumiri alternativeSNP calling, genotyping from sequencing, mutation detection, variant detectionpairwise alignment, multiple sequence alignment, MSA, sequence comparison
Înrudite66
RezumatVariant 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.Sequence alignment is a foundational bioinformatics technique that arranges two or more DNA, RNA, or protein sequences to reveal regions of similarity, infer evolutionary relationships, identify functional domains, and map sequencing reads to reference genomes. It underpins virtually every downstream genomic analysis, from variant calling and gene expression quantification to phylogenetics and structural annotation.
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ScholarGateCompară metode: Variant Calling · Sequence Alignment. Preluat la 2026-06-15 de pe https://scholargate.app/ro/compare