A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia [0.03%]
VACTERL综合征伴罕见的钻石-黑扇贫血家系报告
Iryna Leshchynska,Debjani Das,Victoria O&#x;Reilly et al.
Iryna Leshchynska et al.
The spectrum of congenital malformations in VACTERL association varies among patients and can be differentially diagnosed with CHARGE syndrome, Fanconi anaemia, and others (reviewed in Solomon 2011). Despite overlapping clinical findings, t...
Navigating the use of preimplantation genetic testing: a retrospective analysis of 15 years of the Dutch National Indications Committee for PGT [0.03%]
胚胎植入前遗传学检测的使用导航：荷兰国家指征委员会PGT 15年回顾性分析
Rio N Kramers,Vyne van der Schoot,Eva H Brilstra et al.
Rio N Kramers et al.
Preimplantation genetic testing (PGT) as a reproductive technology to prevent the transmission of genetic anomalies to offspring has been available for decades. In the Netherlands, a National Indications Committee was tasked with guiding de...
Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients [0.03%]
意大利患者的尘核疾病遗传谱系扩大：新的RYR1变异型
Simona Zanotti,Francesca Magri,Sabrina Salani et al.
Simona Zanotti et al.
Core myopathies are congenital diseases with clinical, pathological and genetic heterogeneity. Main histological features are fiber "cores" showing a focally reduced oxidative enzyme activity. Dusty Core Disease (DuCD) differs from Central ...
Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series [0.03%]
自发性冠状动脉夹层与血管型埃勒斯-丹洛斯综合征的系统评价及病例系列研究
Neeti Ghali,Chloe Angwin,Samuel Liebert et al.
Neeti Ghali et al.
Spontaneous coronary artery dissection (SCAD) is a cause of acute myocardial infarction predominantly affecting adult women. A proportion of SCAD cases are associated with rare heritable connective tissue disorders. Vascular EDS (vEDS), due...
Evaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genes [0.03%]
评估用于遗传癌症基因胚系变异解读的体细胞变异预测工具BoostDM
Elisabet Munté,Ferran Muiños,Raúl Marín et al.
Elisabet Munté et al.
Classifying germline variants in hereditary cancer genes remains challenging and requires integrating diverse lines of evidence. BoostDM is a computational method originally developed to identify somatic cancer driver mutations by detecting...
Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection [0.03%]
优化GRIDSS的临床应用：一种用于检测体细胞结构变异的目标NGS过滤策略
Elisabet Munté,Paula Rofes,Miriam Millán-Castillo et al.
Elisabet Munté et al.
Detecting intermediate-sized structural variants (SVs) remains challenging in diagnostics, as tools for single-nucleotide and copy-number variants, particularly read-depth-based methods, are often insufficient. GRIDSS addresses this gap by ...
Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders [0.03%]
低成本高效的三联体池化外显子测序技术在神经发育障碍疾病新基因发现中的应用
Lucía López-López,Laura Lapeña-Gil,Yolanda Benítez et al.
Lucía López-López et al.
The broad genetic heterogeneity of neurodevelopmental disorders (NDDs) makes their molecular diagnosis particularly challenging. In this context, Whole-Exome Sequencing (WES), specifically in a trio-based design, is a powerful strategy due ...
Genetic basis of the circle of Willis characteristics in the healthy and intracranial aneurysm population [0.03%]
健康人群和颅内动脉瘤人群中Willis环特征的遗传基础
Mark K Bakker,Phebe J Groenheide,Iris N Vos et al.
Mark K Bakker et al.
Rupture of an intracranial aneurysm (IA) can result in aneurysmal subarachnoid hemorrhage (ASAH), a severe and often fatal form of stroke. The configuration of the intracranial arteries - collectively known as the circle of Willis (CoW) - i...
Survey of diagnostic laboratories highlights need for improved standards in somatic genomic testing and reporting [0.03%]
对诊断实验室的调查强调了提高体细胞基因组检测和报告标准的必要性
Grace Pendlebury,Emma Tudini,James Andrews et al.
Grace Pendlebury et al.
There is a growing international need to support somatic genomic testing, standardised variant curation and improved patient access to molecular profiling for somatic conditions, including cancer. We conducted a survey of scope, curation, r...
Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR [0.03%]
TYR基因剪接位点致病突变导致的28例近婚血亲家族眼皮肤白化病变异型患者的临床特征及功能分析
Muhammad Farooq,Gitte Hoffmann Bruun,Menachem V K Sarusie et al.
Muhammad Farooq et al.
Oculocutaneous albinism (OCA) are genetically and clinically heterogeneous recessive disorders with at least 23 associated genes. Isolated OCA is characterized by hypopigmentation in the skin, hair, and eyes combined with ocular abnormaliti...