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জিনোম-ওয়াইড অ্যাসোসিয়েশন স্টাডি (GWAS)×কপি নম্বর ভ্যারিয়েশন (CNV) বিশ্লেষণ×
ক্ষেত্রজৈব তথ্যবিজ্ঞানজৈব তথ্যবিজ্ঞান
পরিবারProcess / pipelineProcess / pipeline
উদ্ভবের বছর2005–20071998–2006
প্রবর্তকKlein et al. (age-related macular degeneration GWAS, 2005); landmark scale: Wellcome Trust Case Control Consortium (2007)Pinkel et al. (array CGH); Redon et al. (genome-wide CNV map)
ধরনObservational genomic association studyGenomic structural variant detection pipeline
মৌলিক উৎসWellcome Trust Case Control Consortium. (2007). Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature, 447(7145), 661–678. link ↗Redon, R., Ishikawa, S., Fitch, K. R., et al. (2006). Global variation in copy number in the human genome. Nature, 444(7118), 444–454. DOI ↗
অপর নামGWAS, genome-wide association analysis, whole-genome association study, WGASCNV analysis, copy number variant detection, CNV calling, somatic copy number alteration analysis
সম্পর্কিত66
সারসংক্ষেপA genome-wide association study (GWAS) systematically tests hundreds of thousands to millions of single-nucleotide polymorphisms (SNPs) across the human genome for statistical association with a trait or disease. By comparing allele frequencies between cases and controls — or by regressing SNP genotypes on a quantitative phenotype — GWAS identifies genomic loci that harbor common genetic variants contributing to complex traits. Since its large-scale debut in 2007, GWAS has catalogued thousands of robust disease–variant associations across virtually every common human condition.Copy number variation (CNV) analysis is a genomic pipeline for detecting regions where individuals carry fewer or more copies of a DNA segment than the reference genome. CNVs span kilobases to megabases and are a major class of structural variation implicated in cancer, neurodevelopmental disorders, and population diversity. The pipeline typically processes SNP array intensities or read-depth signals from whole-genome sequencing, applies segmentation algorithms, calls gain and loss events, and annotates them against gene and clinical databases.
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ScholarGateপদ্ধতির তুলনা করুন: Genome-wide association study · Copy Number Variation Analysis. 2026-06-19 তারিখে সংগৃহীত, উৎস: https://scholargate.app/bn/compare