ClinSV：从全基因组测序数据中检测临床级别的结构和拷贝数变异。
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.
机构信息
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, 370 Victoria Street, Darlinghurst, NSW, Australia.
St Vincent's Clinical School, UNSW, Sydney, NSW, Australia.
出版信息
Genome Med. 2021 Feb 25;13(1):32. doi: 10.1186/s13073-021-00841-x.
Whole genome sequencing (WGS) has the potential to outperform clinical microarrays for the detection of structural variants (SV) including copy number variants (CNVs), but has been challenged by high false positive rates. Here we present ClinSV, a WGS based SV integration, annotation, prioritization, and visualization framework, which identified 99.8% of simulated pathogenic ClinVar CNVs > 10 kb and 11/11 pathogenic variants from matched microarrays. The false positive rate was low (1.5-4.5%) and reproducibility high (95-99%). In clinical practice, ClinSV identified reportable variants in 22 of 485 patients (4.7%) of which 35-63% were not detectable by current clinical microarray designs. ClinSV is available at https://github.com/KCCG/ClinSV .
全基因组测序（WGS）在检测结构变异（SV），包括拷贝数变异（CNV）方面具有优于临床微阵列的潜力，但一直受到高假阳性率的挑战。在这里，我们介绍了 ClinSV，这是一个基于 WGS 的 SV 整合、注释、优先级和可视化框架，它能够检测到 99.8%的模拟致病性 ClinVar > 10kb 的 CNV 和 11/11 个来自匹配微阵列的致病性变体。假阳性率较低（1.5-4.5%），重现性较高（95-99%）。在临床实践中，ClinSV 在 485 名患者中的 22 名（4.7%）患者中发现了可报告的变异，其中 35-63%的变异是当前临床微阵列设计无法检测到的。ClinSV 可在 https://github.com/KCCG/ClinSV 上获得。
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