Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease [0.03%]
逆向单体型分析：在亨廷顿舞蹈病中充分利用对50%风险父母的25%风险检测结果
Emilia K Bijlsma,Tamara T Koopmann,Susanne T de Bot et al.
Emilia K Bijlsma et al.
Presymptomatic testing (PT) for Huntington's disease (HD) has been available for over 40 years. Individuals who opt for PT are typically at a 50% risk, though in rare cases, '25% at-risk individuals' request to know their genetic status. Fa...
ACAN-related disorder, antenatal presentation and phenotypic variability: a case series [0.03%]
ACAN相关障碍的产前表现及表型变异：一系列病例研究
Nikhil Pattani,Anna Page,Joy L Barber et al.
Nikhil Pattani et al.
Background: Pathogenic ACAN variants ('aggrecanopathies') are increasingly recognised as a non-syndromic cause of skeletal dysplasias and short stature. Unlike many other aetiologies, ACAN-related disorder is reportedly a...
Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate [0.03%]
西南中国人群的携带者筛查扩展表明，东亚特异性低频病理性变异占风险夫妻的比例接近一半
Sha Liu,Liyuan Cao,Victor Wei Zhang et al.
Sha Liu et al.
Background: The optimal disease spectrum for carrier screening (CS) remains debated. We aimed to characterise the carrier landscape and quantify the at-risk couple rate (ACR) components in a Chinese population to guide pa...
Molecular sleuthing: unmasking hidden lymphomas through plasma DNA sequencing [0.03%]
分子侦探技术：通过血浆DNA测序揭开隐藏淋巴瘤的面纱
Mathilde Bonnot,Pauline Bertin,Thibault Maillet et al.
Mathilde Bonnot et al.
Diagnosing lymphomas can be challenging, particularly in atypical presentations lacking histological confirmation. We report two cases where next-generation sequencing of plasma cell-free DNA (cfDNA) enabled the early detection of diffuse l...
Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2 [0.03%]
长读序列为IMPG基因中新生变异的三联体辅助相位分析提供可能
Thomas W Laver,Preeah Sangha,Lucy Mallin et al.
Thomas W Laver et al.
Schaaf-Yang syndrome and Prader-Willi syndrome are imprinting disorders that result from the disruption of paternally expressed genes within the 15q11-q13 region. Both conditions present with overlapping clinical features including developm...
Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers [0.03%]
BRCA1 185delAG突变携带者中固有免疫基因的致病错义变异与乳腺癌发病年龄提前有关
Sapir Shemesh,Rinat Bernstein-Molho,Shelley Shoval et al.
Sapir Shemesh et al.
Background: Penetrance of breast cancer (BC) among women who carry pathogenic variants (PVs) in BRCA1 is incomplete, and the age at BC diagnosis varies considerably, even among carriers of the same PV, suggesting the invo...
The SINEs were there: identification of a pathogenic Alu insertion in a patient with DICER1-related tumour predisposition [0.03%]
SINE们在这里：识别出的一例与DICER1相关肿瘤易感性患者中的致病Alu插入序列
Oluwatosin O Taiwo,Paola Angelini,Iman Awadh et al.
Oluwatosin O Taiwo et al.
DICER1-related tumour predisposition (DRTP) is an autosomal dominant disorder marked by increased risk of benign and malignant tumours across multiple organ systems. A genetic diagnosis of DRTP requires identification of a (likely) pathogen...
ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer [0.03%]
ATM c.7374_7375insAlu是一种与胰腺癌和乳腺癌易感性相关的法国加拿大人共同起源致病变异体
Yifan Wang,Celine Domecq,Adeline Cuggia et al.
Yifan Wang et al.
Founder pathogenic variants (PVs) in BRCA1, BRCA2 and PALB2 increase lifetime risk of developing breast (BC), ovarian (OC) and pancreatic (PC) cancer. They have been identified in French-Canadians (FC), a population exhibiting genetic drift...
Perspectives of adolescents and young adults with advanced cancer on complete genomic analysis in standard oncology care [0.03%]
青少年及年轻成人晚期癌症患者对标准肿瘤治疗中完整基因组分析的看法
Lina H Lankhorst,Milou J P Reuvers,Noor A A Giesbertz et al.
Lina H Lankhorst et al.
Purpose: Tumour genomic profiling, including whole genome sequencing (WGS), offers opportunities for refined diagnosis and personalised treatment for adolescents and young adults (AYAs) with advanced or poor prognostic ca...
Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants [0.03%]
11509例携带已知耳聋致病变异新生儿的基因型与表型相关性分析
Jianjun Li,Zijun Zhan,Xiao Zhang et al.
Jianjun Li et al.
Background: This study aimed to analyse the distribution and genotype-phenotype correlations of pathogenic variants among 11 509 newborns carrying at least one common deafness-associated variant. ...