Immuno-molecular features associated with exceptional recurrence-free survivorship from Ovarian Cancer in the pre-PARP era [0.03%]
Félix Blanc-Durand,Elisa Yaniz Galende,Gwénaël Ferron et al.
Félix Blanc-Durand et al.
High-grade serous ovarian cancer (HGSOC) remains a leading cause of gynecological cancer mortality, with only
Low-penetrance TP53 variants are mainly hypomorphic: an underestimated issue with high clinical significance [0.03%]
Lea Rodriguez,Bernard Leroy,Franck Toledo et al.
Lea Rodriguez et al.
Missense mutations that inactivate p53 are common in cancer. LiFraumeni syndrome, which is linked to early-onset cancer, is caused by germline mutations in TP53. Full-penetrant, inactive variants have garnered great attention, whereas low-p...
Variants in the ciliopathy gene SCLT1 are associated with non-syndromic and syndromic retinal degeneration of variable severity [0.03%]
视鞭毛病基因SCLT1的变异与非综合征性和综合征性视网膜变性的相关性
Riccardo Sangermano,Kaoru Fujinami,Suk Ho Byeon et al.
Riccardo Sangermano et al.
Inherited retinal degenerations (IRDs) are a group of clinically and genetically heterogeneous blinding disorders. In this study, we describe five families clearly or which were presumed to be diagnosed with autosomal recessive non-syndromi...
Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling [0.03%]
一种高性能体细胞外显子组测序检测试剂盒的临床验证：从靶标富集策略到变异解读
Junko Tsuji,Micah Rickles-Young,Justin Abreu et al.
Junko Tsuji et al.
Clinical whole-exome sequencing (WES) has revolutionized clinical diagnostics by enabling scalable, cost-effective molecular profiling to detect somatic variants and identify novel therapeutic targets. In particular, the clinical evaluation...
Proof-of-concept study for the detection of somatic structural variant driver alterations using HiFi long-read sequencing in a pediatric leukemia cohort [0.03%]
基于HiFi长读测序在儿童白血病队列中检测体细胞结构变异驱动改变的概念验证研究
Lisa A Lansdon,Byunggil Yoo,Ayse Keskus et al.
Lisa A Lansdon et al.
Gene fusions are common primary drivers of pediatric leukemias and are the result of underlying structural variants (SVs). Current clinical workflows to detect such alterations rely on a multimodal approach, which often increases analysis t...
Unraveling the genetic architecture of non-Huntington chorea: a biobank-scale study of rare variants and repeat expansions [0.03%]
解开非亨廷顿舞蹈症的遗传结构：罕见变异和重复扩增的生物库规模研究
Fulya Akçimen,Monica Diez-Fairen,Ignacio Alvarez et al.
Fulya Akçimen et al.
Chorea can arise from genetic, metabolic, pharmacologic, and autoimmune causes. In clinical practice, however, non-genetic causes are rare. The most common genetic cause is a CAG repeat expansion in HTT, leading to Huntington's disease (HD)...
A biallelic MRPL42 variant causes a combined oxidative phosphorylation deficiency syndrome revealed by multi-omics [0.03%]
靶向MRPL42双等位基因变异的多种组学联合研究发现一种氧化磷酸化联发缺陷综合征
Felix Boschann,Johannes Kopp,Susanne Römer et al.
Felix Boschann et al.
Pathogenic variants affecting components of the mitochondrial translation machinery lead to various impairments of mitochondrial function and thereby cause a spectrum of multisystem diseases. In an infant with a fatal, metabolic multisystem...
Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns [0.03%]
万人规模的基因组筛查揭示了中国新生儿中高比例可行动的次要发现
Yushan Huang,Ya Gao,Zonghao Duan et al.
Yushan Huang et al.
Secondary findings (SFs) from genome sequencing have significant implications for disease prevention and early intervention, yet their population-specific spectrum remains poorly characterized in non-European cohorts. We performed whole-gen...
A novel phenotype-guided genome analysis pipeline for variant discovery [0.03%]
一种新型表型指导的基因组分析流水线用于变异识别
Layla Ahmed,Erika Tavares,Janice Min Li et al.
Layla Ahmed et al.
Inherited retinal dystrophies (IRDs) are a genetically diverse group of vision loss disorders with over 360 implicated genes. However, 30-50% of cases remain unresolved after panel-based clinical testing and may benefit from exome or genome...
Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations - breaking the 'rare disease' status? [0.03%]
基于基因型的Birt-Hogg-Dube综合征在医疗和基因组注册人群中的流行率-打破"罕见病"状态？
Izabela Broniarek,David J Kwiatkowski,Neil Rajan et al.
Izabela Broniarek et al.
The phenotype-based prevalence of Birt-Hogg-Dubé syndrome (BHD) is commonly estimated at 1 in 200,000–500,000. However, we demonstrate that BHD-causing FLCN variants are 75 to 180 times more prevalent in the multi-ethnic large genomic reg...