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Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.英国应用全基因组测序诊断神经重复扩展疾病：回顾性诊断准确性和前瞻性临床验证研究。
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3
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5
ClinSV: clinical grade structural and copy number variant detection from whole genome sequencing data.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。
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Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).单亲二体的诊断检测：美国医学遗传学与基因组学学会（ACMG）的一份要点声明
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基因组测序可检测到广泛的临床相关拷贝数变异和其他基因组改变。

Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.

机构信息

Rady Children's Institute for Genomic Medicine, San Diego, CA.

Rady Children's Institute for Genomic Medicine, San Diego, CA.

出版信息

Genet Med. 2024 Jan;26(1):101006. doi: 10.1016/j.gim.2023.101006. Epub 2023 Oct 20.

DOI:10.1016/j.gim.2023.101006
PMID:37869996
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11542619/
Abstract

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.

RESULTS

Together, these genetic alterations accounted for 15.8% of reported variants. Notably, 67.9% of these were deletions, 32.9% of which overlapped a single gene, and many deletions were reported together with a second variant in the same gene in cases of recessive disease. A retrospective medical record review in a subset of this cohort revealed that up to 6 additional genetic tests were ordered in 68% (26/38) of cases, some of which failed to report the CNVs/rare variants reported on GS.

CONCLUSION

GS detected a broad range of reported variant types, including CNVs ranging in size from 1 Kb to 46 Mb.

摘要

目的

拷贝数变异（CNVs）和其他非单核苷酸变异/缺失变异类型在疑似遗传疾病患者的诊断中占重要比例。本研究描述了通过基因组测序（GS）检测到的此类变异的范围。

方法

对 1032 名接受临床 GS 的儿科队列患者，我们对报告的 CNVs 和其他非单核苷酸变异/缺失变异类型进行了特征描述，包括非整倍体、移动元件插入和单亲二体性，并描述了用于检测这些变异的生物信息学流程。

结果

这些遗传改变共占报告变异的 15.8%。值得注意的是，其中 67.9%为缺失，其中 32.9%重叠一个基因，许多缺失与隐性疾病中同一基因的第二个变异一起报告。对该队列的一部分进行回顾性病历审查发现，在 68%（26/38）的病例中，多达 6 种额外的遗传检测被订购，其中一些未能报告 GS 报告的 CNV/罕见变异。

结论

GS 检测到广泛的报告变异类型，包括大小从 1 Kb 到 46 Mb 的 CNVs。