The Jackson Laboratory for Genomic Medicine, Farmington, CT, 06032, USA.
William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, EC1M 6BQ, UK.
Genome Med. 2022 Apr 28;14(1):44. doi: 10.1186/s13073-022-01046-6.
Structural variants (SVs) are implicated in the etiology of Mendelian diseases but have been systematically underascertained owing to sequencing technology limitations. Long-read sequencing enables comprehensive detection of SVs, but approaches for prioritization of candidate SVs are needed. Structural variant Annotation and analysis (SvAnna) assesses all classes of SVs and their intersection with transcripts and regulatory sequences, relating predicted effects on gene function with clinical phenotype data. SvAnna places 87% of deleterious SVs in the top ten ranks. The interpretable prioritizations offered by SvAnna will facilitate the widespread adoption of long-read sequencing in diagnostic genomics. SvAnna is available at https://github.com/TheJacksonLaboratory/SvAnn a .
结构变异（SVs）与孟德尔疾病的病因有关，但由于测序技术的限制，系统性地被低估了。长读测序能够全面检测 SVs，但需要优先考虑候选 SVs 的方法。结构性变异注释和分析（SvAnna）评估了所有类别的 SVs 及其与转录本和调节序列的交集，将对基因功能的预测影响与临床表型数据联系起来。SvAnna 将 87%的有害 SVs 排在前 10 位。SvAnna 提供的可解释的优先级将促进长读测序在诊断基因组学中的广泛应用。SvAnna 可在 https://github.com/TheJacksonLaboratory/SvAnn a 上获得。
