Long-read genome sequencing increases diagnostic yield in a short-read sequencing unsolved developmental epileptic encephalopathy (DEE) cohort [0.03%]
长读序基因组测序在短读序测序无法诊断的发育性癫痫性脑病患者中的应用价值评估
Chanatjit Cheawsamoot,Rungroj Thangpong,Wanna Chetruengchai et al.
Chanatjit Cheawsamoot et al.
Developmental epileptic encephalopathy (DEE) comprises neurodevelopmental disorders with early-onset seizures and developmental impairment. Despite >900 implicated genes, many patients remain undiagnosed after short-read sequencing (SRS). W...
VHL gene fragment analysis: large inversion detection in Alu region for clinical applications [0.03%]
VHL基因片段分析：用于临床应用的Alu区大型倒位检测
Ryan N Baugher,Stephanie D Mellott,Kristen M Pike et al.
Ryan N Baugher et al.
von Hippel-Lindau (VHL) is an autosomal-dominant tumour susceptibility disorder associated with pathogenic germline variants in the VHL gene that put patients at increased risk of developing benign and malignant tumours within various organ...
Rare missense variants in MYO7A and OTOP2 genes in a South Korean Meniere's disease cohort [0.03%]
梅尼埃病的罕见错义变异体(MyO7A和OtOp2基因)
Mai T Pham,Pablo Cruz-Granados,Prathamesh T Nadar-Ponniah et al.
Mai T Pham et al.
Background: Meniere's disease (MD) is a polygenic condition defined by episodes of vertigo associated with sensorineural hearing loss and tinnitus. Genetic studies in familial MD in East Asian populations are limited, and...
Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies [0.03%]
光学基因组学在早期发病的发育性癫痫性脑病中的应用，可检测到以前未曾发现的致病突变
Sanem Yilmaz,Enise Avci Durmusalioglu,Dilara Ece Toprak Dogan et al.
Sanem Yilmaz et al.
Background: Optical genome mapping (OGM) is a novel technology that enables high-resolution detection of structural variants. This study aimed to evaluate the diagnostic contribution of OGM in early-onset developmental ep...
Clinical characteristics and prognosis of SDHD pathogenic variant carriers: a systematic review and meta-analysis [0.03%]
SDHD致病突变携带者的临床特征和预后：系统评价和meta分析
Xinquan Lian,Liping Shen,Jiayin Song et al.
Xinquan Lian et al.
Background: Germline pathogenic variants (PVs) of succinate dehydrogenase subunit D (SDHD) are major genetic causes of pheochromocytomas and paragangliomas. Existing studies have reported inconsistent findings and lack a ...
Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease [0.03%]
逆向单体型分析：在亨廷顿舞蹈病中充分利用对50%风险父母的25%风险检测结果
Emilia K Bijlsma,Tamara T Koopmann,Susanne T de Bot et al.
Emilia K Bijlsma et al.
Presymptomatic testing (PT) for Huntington's disease (HD) has been available for over 40 years. Individuals who opt for PT are typically at a 50% risk, though in rare cases, '25% at-risk individuals' request to know their genetic status. Fa...
ACAN-related disorder, antenatal presentation and phenotypic variability: a case series [0.03%]
ACAN相关障碍的产前表现及表型变异：一系列病例研究
Nikhil Pattani,Anna Page,Joy L Barber et al.
Nikhil Pattani et al.
Background: Pathogenic ACAN variants ('aggrecanopathies') are increasingly recognised as a non-syndromic cause of skeletal dysplasias and short stature. Unlike many other aetiologies, ACAN-related disorder is reportedly a...
Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate [0.03%]
西南中国人群的携带者筛查扩展表明，东亚特异性低频病理性变异占风险夫妻的比例接近一半
Sha Liu,Liyuan Cao,Victor Wei Zhang et al.
Sha Liu et al.
Background: The optimal disease spectrum for carrier screening (CS) remains debated. We aimed to characterise the carrier landscape and quantify the at-risk couple rate (ACR) components in a Chinese population to guide pa...
Molecular sleuthing: unmasking hidden lymphomas through plasma DNA sequencing [0.03%]
分子侦探技术：通过血浆DNA测序揭开隐藏淋巴瘤的面纱
Mathilde Bonnot,Pauline Bertin,Thibault Maillet et al.
Mathilde Bonnot et al.
Diagnosing lymphomas can be challenging, particularly in atypical presentations lacking histological confirmation. We report two cases where next-generation sequencing of plasma cell-free DNA (cfDNA) enabled the early detection of diffuse l...