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ক্ষেত্রজৈব তথ্যবিজ্ঞানজৈব তথ্যবিজ্ঞান
পরিবারProcess / pipelineProcess / pipeline
উদ্ভবের বছর2009–2010 (modern high-throughput era)2016 (Monovar; foundational single-cell SNV calling)
প্রবর্তকLi et al. (SAMtools/bcftools, 2009); McKenna et al. (GATK, 2010)Hamim Zafar, Ken Chen, Nicholas Navin and colleagues
ধরনComputational genomics pipelineComputational genomics pipeline
মৌলিক উৎসMcKenna, 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 ↗
অপর নামSNP calling, genotyping from sequencing, mutation detection, variant detectionscVariant calling, single-cell SNV calling, scDNA-seq variant detection, single-cell somatic mutation calling
সম্পর্কিত61
সারসংক্ষেপVariant 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.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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অনুসন্ধানে যান স্লাইড ডাউনলোড করুন

ScholarGateপদ্ধতির তুলনা করুন: Variant Calling · Single-cell variant calling. 2026-06-17 তারিখে সংগৃহীত, উৎস: https://scholargate.app/bn/compare