Short-read genome sequencing at population scale: diagnostic insights from 2317 patients [0.03%]
基于人群的短读长测序：来自2317名患者的新诊断学见解
Søren L Faergeman,Lotte Andreasen,Naja Becher et al.
Søren L Faergeman et al.
As part of the Danish National Genome Centre (DNGC) initiative, the Central Denmark Region has implemented short-read whole-genome sequencing (srWGS) as a first-tier diagnostic tool for suspected monogenetic disorders. Despite increasing ad...
Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells [0.03%]
连接人口和细胞：用诱导多能干细胞模拟复杂疾病
Eva S van Zanten,Elizabeth A Loehrer,Joyce B J van Meurs et al.
Eva S van Zanten et al.
Induced pluripotent stem cells (iPSCs) have emerged as a powerful tool in biomedical research, enabling the study of cellular function and early disease mechanisms within patient-specific genetic contexts. Traditionally, iPSCs have been use...
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld-Rieger syndrome [0.03%]
非编码结构变异破坏调节AXENFELD-RIEGER综合症保守PITX2增强子位点
Lucas A Mitchell,Joshua Schmidt,Emmanuelle Souzeau et al.
Lucas A Mitchell et al.
Axenfeld-Rieger Syndrome (ARS) is an autosomal dominant condition with both ocular and non-ocular manifestations. ARS is primarily caused by coding variants at the PITX2 or FOXC1 loci, yet many cases still remain undiagnosed. Here we used w...
Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension [0.03%]
增加低证据基因在肺动脉高压遗传负担中的应用
Lucía Miranda-Alcaraz,Mónica Mora-Gómez,Natalia Gallego-Zazo et al.
Lucía Miranda-Alcaraz et al.
Pulmonary arterial hypertension (PAH) is a severe disease characterized by elevated pulmonary artery pressure, leading to heart failure and premature death if untreated. Genetic factors significantly contribute to PAH, and several genes hav...
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals [0.03%]
PACS1相关疾病的DNA甲基化标志物及临床表型特征(24例未报道患者)
Quentin Sabbagh,Camille Cenni,Sadegheh Haghshenas et al.
Quentin Sabbagh et al.
PACS1-related disorder (PACS1-RD), also known as Schuurs-Hoeijmakers syndrome, is a rare autosomal dominant neurodevelopmental disorder predominantly caused by the recurrent de novo c.607 C > T p.(Arg203Trp) gain-of-function variant. Althou...
Pragnya Srinivasamurthy,Kosha J Mehta
Pragnya Srinivasamurthy
Haemochromatosis is a genetic disorder of iron homeostasis. It can be caused by mutations in genes encoding the iron-regulatory hormone hepcidin (HAMP), and/or genes that regulate hepcidin expression (HFE, HJV, TFR2), or a gain-of-function ...
From science to service-overcoming clinical implementation barriers to population genomic screening [0.03%]
从科学到服务——克服群体基因组筛查的临床实施障碍
Videha Sharma,John H McDermott,William G Newman
Videha Sharma
Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results [0.03%]
系统重新评估怀疑患有Alport综合征个体中报告的变异发现有较高的不确定结果率
Korbinian M Riedhammer,Patrick Richthammer,Dominik S Westphal et al.
Korbinian M Riedhammer et al.
"Alport spectrum disorder" describes a phenotypically and genotypically multifaceted disease entity encompassing classic autosomal recessive and X-linked Alport syndrome (AS) but also more heterogenous and typically milder, yet not benign, ...
Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions [0.03%]
遗传性癌症检测中的序列方法：优势、局限及未来方向
Sami Belhadj,Christopher J Hatch,Holly LaDuca et al.
Sami Belhadj et al.
Over the past three decades, Hereditary Cancer Testing (HCT) has evolved from single gene assays into multigene panel testing (MGPT), which allows for the screening of all known hereditary cancer genes in a single assay. MGPT is currently t...
Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants [0.03%]
PMS2错义变异支持功能评估的结构与保守性分析
Nicholas Zeuzem,Manon Quilan,Mev Dominguez-Valentin et al.
Nicholas Zeuzem et al.
Germline defects in mismatch repair (MMR) genes are known to significantly increase the risk of developing certain types of cancers, notably colorectal and endometrial cancers. These conditions are characterized under Lynch syndrome. Accura...