Validation structures for sequence variants of uncertain significance in hereditary cancer [0.03%]
遗传性癌症不确定意义的序列变异验证结构
Morghan C Lucas,Thomas Keßler,Anna Benet-Pagès et al.
Morghan C Lucas et al.
Hereditary cancer syndromes are among the most common inherited disorders and contribute to nearly 10% of solid tumours. While genetic testing is now central to diagnosis, surveillance, and cascade prevention, its impact is constrained by t...
Cultural, ethical, legal, and social considerations in genomics research with Indigenous Peoples: A scoping review [0.03%]
土著人民基因组研究中的文化、伦理、法律和社会问题的系统综述
Rubi-Jayne Cohen,Rebekah McWhirter,Lyndsay Newett et al.
Rubi-Jayne Cohen et al.
Indigenous communities are under-represented in genomics research, contributing to inequitable health-related knowledge, outcomes, and benefits. Under-representation reflects enduring consequences of colonial research practices that have en...
Introducing whole genome sequencing in newborn screening in Greece: ethical, clinical, and policy considerations in the European context [0.03%]
希腊新生儿筛查中引入全基因组测序：欧洲背景下伦理、临床和政策考量
Athina Ververi,Manolis Kogevinas,Takis Panagiotopoulos et al.
Athina Ververi et al.
HiFi long-read RNA sequencing enhances clinical diagnostics in rare disorders [0.03%]
高度灵敏的RNA长读序提高罕见病的临床诊断率
Carolina Jaramillo Oquendo,Federico Ferraro,Htoo A Wai et al.
Carolina Jaramillo Oquendo et al.
Splice-disrupting variants are estimated to account for one-third of disease-causing variants, yet many remain underrepresented in clinical databases due to limitations in detecting splicing changes beyond canonical splice sites. Short-read...
PubMatcher: a web app to support genomic data interpretation through simplified bibliographic research [0.03%]
PubMatcher：一个通过简化文献研究来支持基因组数据分析解释的网络应用程序
Victor Marin,Hugo Lannes,Victor Dumont et al.
Victor Marin et al.
In the era of rapidly accumulating genomic data, largely driven by the broad use of whole-genome sequencing (WGS) in clinical settings, interpreting lesser-known genes with varied phenotypes remains challenging. PubMatcher is a new tool tha...
Seda S Zonuzi
Seda S Zonuzi
Correction: Performance of different polygenic risk scores for breast cancer risk prediction: in-depth evaluations across large UK and Australian cohorts [0.03%]
纠正：不同多基因风险评分乳腺癌风险预测性能：在大规模英国和澳大利亚队列中的深入评估
Hamzeh M Tanha,Matthew H Law,Nathan Ingold et al.
Hamzeh M Tanha et al.
Published Erratum
European journal of human genetics : EJHG. 2026 Mar 3. DOI:10.1038/s41431-026-02064-3 2026
Tumor patterns and cancer risk in carriers of TP53 exonic germline variants that alter mRNA splicing [0.03%]
TP53外显子系变异改变mRNA剪接的携带者的肿瘤模式和癌症风险
Deborah Schönegger,Emilie Montellier,Sandrine Blanchet et al.
Deborah Schönegger et al.
Abnormal RNA splicing is an underrecognized driver of pathogenicity in germline TP53 - the cause of Li-Fraumeni syndrome (LFS). We re-evaluated exonic single-nucleotide variants (SNVs) that yield missense or synonymous changes for spliceoge...
From targeted to genome-wide DNA testing in public health screening programs-an introduction to the special issue of the European Journal of Human Genetics [0.03%]
从目标DNA检测到全基因组DNA检测——公共健康筛查计划以及欧洲人类遗传学杂志特刊简介
Martina C Cornel,Saskia Smits,Belinda Dawson-McClaren
Martina C Cornel
"Where do I go from here?" Navigating a lifelong road without a map: the care experiences of hereditary cancer patients [0.03%]
“我该去哪儿？”：无指南针的遗传性癌症患者的长期求医经历
Carly Butkowsky,June C Carroll,Melyssa Aronson et al.
Carly Butkowsky et al.
Individuals with hereditary cancer syndromes (HCS) face significant healthcare challenges, as they require lifelong surveillance for a multitude of at-risk organs. Despite the existence of HCS programs, literature has not elucidated the pat...