Biallelic variants in DNAH10 are associated with skeletalf developmental abnormalities and ciliary dysfunction [0.03%]
DNAH10双等位基因变异与骨骼发育异常和纤毛功能障碍相关性研究
Rui Zheng,Xinrong Du,Jierui Yan et al.
Rui Zheng et al.
Background: Primary cilia are essential for skeletal development by coordinating key signalling pathways in osteoblasts and chondrocytes. While pathogenic variants in approximately 40 genes have been linked to skeletal ci...
Uterine serous carcinoma and germline genetic testing: patterns of referral, completion and pathogenic variant detection [0.03%]
子宫浆液性癌和遗传咨询检测：推荐模式、完成情况及致病基因变异检测结果
Lauren Tostrud,Simge Bagci Turkmen,Jiaqi Zhang et al.
Lauren Tostrud et al.
Background: Current guidelines recommend consideration of germline genetic testing for patients with uterine serous carcinoma (USC) but real-world data are limited on completion rates of testing and pathogenic variant (PV...
Best practice recommendations for bioinformatics approaches applied to high-throughput sequencing for rare disease and cancer diagnosis within the UK National Health Service [0.03%]
英国国家卫生服务机构(NHS)用于罕见病和癌症诊断的高通量测序生物信息学方法的最佳实践建议
Jamie M Ellingford,Erik Waskiewicz,Ashley J Pritchard et al.
Jamie M Ellingford et al.
Background: Establishing best practice recommendations helps to increase consistency, equity and innovation in clinical genomics services. Bioinformatics approaches are a core component of clinical genomics services that ...
Pathogenic mobile element insertion in the MEN1 gene mimicking a deletion in MLPA: characterisation by long-read sequencing [0.03%]
长读序列表征的MEN1基因病原移动元件插入事件：MLPA检测中的缺失表型现象
Aleksandra Pfeifer,Jadwiga Zebracka-Gala,Agnieszka Pawlaczek et al.
Aleksandra Pfeifer et al.
Background: Mobile element insertions (MEIs) disrupting coding sequences are rare but clinically significant mutations that are often missed by standard next-generation sequencing (NGS) workflows. Multiple endocrine neopl...
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 ...