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Fabric Genomics opal genetic analysis platform
Opal Genetic Analysis Platform, supplied by Fabric Genomics, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/opal+platform/opal+genetic+analysis+platform/pm37869996-53-11-7
Average 90 stars, based on 1 article reviews
opal genetic analysis platform - by Bioz Stars, 2026-10
90/100 stars

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Article Title: Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.
Article Snippet: Purpose: Copy-number variants (CNVs) and other non–single nucleotide variant/indel variant types contribute an important proportion of diagnoses in individuals with suspected genetic disease.. This study describes the range of such variants detected by genome sequencing (GS).. Methods: For a pediatric cohort of 1032 participants undergoing clinical GS, we characterize the CNVs and other non–single nucleotide variant/indel variant types that were reported, including aneuploidies, mobile element insertions, and uniparental disomies, and we describe the bioinformatic pipeline used to detect these variants.



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