Sequencing every UK newborn: why cold storage economics should shape policy [0.03%]
排序每一个英国新生儿：为什么冷存储经济学应该塑造政策
Timothy Hearn
Timothy Hearn
Whole-genome sequencing (WGS) for every UK newborn is hailed as a leap towards lifelong personalised medicine, yet policymakers have scarcely examined the informatics iceberg beneath the initiative: where, and at what cost, will millions of...
Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent-clinician interactions [0.03%]
全基因组测序诊断儿童罕见病结果披露的相关挑战：家长与临床医生互动分析
Holly Ellard,Jhumana Ali,Phoebe Buxton et al.
Holly Ellard et al.
Background: Whole genome sequencing (WGS) has recently been introduced as a diagnostic test for patients with particular rare diseases in the National Health Service (NHS) in England. Little is known about the process of ...
Intragenic loss-of-function variants in transcription factors MAZ, FOXP1 and SIN3B in colobomatous microphthalmia [0.03%]
转录因子MAZ、FOXP1和SIN3B的内含子功能丧失变异与视网膜缺损小眼症相关
Sarah E Seese,Linda M Reis,Adele Schneider et al.
Sarah E Seese et al.
Despite the identification of many genes involved in developmental eye phenotypes, a large percentage of families lack genetic diagnoses, suggesting novel mechanisms remain to be discovered. Large deletions of 16p11.2, 3p14 or 19p13.11 regi...
Association for Clinical Genomic Science (ACGS) guidelines for the classification of oncogenicity of somatic variants in cancer: recommendations by the UK somatic variant interpretation group (SVIG-UK) [0.03%]
英国体细胞变异解读小组（SVIG-UK）关于癌症中体细胞性变体致癌性的分类的临床基因组科学协会（ACGS）指导原则建议
George J Burghel,Joanne Mason,Kevin Baker et al.
George J Burghel et al.
Comprehensive genomic testing in routine cancer care pathways has created the need to interpret the consequences of somatic (acquired) genomic variants beyond the currently well-characterised driver variants in cancer gene hotspots. While s...
ACTH-secreting atypical carcinoid lung tumour expanding the Lynch syndrome spectrum [0.03%]
一种罕见的肺类癌肿瘤分泌促肾上腺皮质激素扩大林奇综合征的范围
Kevin Van Compernolle,Jacques Van Huysse,Kathleen B M Claes et al.
Kevin Van Compernolle et al.
Neuroendocrine tumours (NETs) are increasingly associated with Lynch syndrome (LS). In this autosomal dominant cancer predisposition syndrome, a somatic mutation in addition to a germline pathogenic variant is required for tumour developmen...
Expert endoscopic surveillance in CDH1 pathogenic variant carriers seems safe, even after positive (pT1a) biopsies [0.03%]
CDH1基因病理性变异携带者的专家内镜随访似乎是安全的，即使在阳性（pT1a）活检之后也是安全的
Patrick R Benusiglio,Romain Leenhardt,Caroline Duros et al.
Patrick R Benusiglio et al.
Surveillance is increasingly considered an alternative to prophylactic total gastrectomy in asymptomatic carriers of CDH1 pathogenic variants. There are three main reasons for this paradigm shift: (1) decreasing penetrance estimates for sig...
Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome [0.03%]
通过三维面部形态学推进基因型和表型分析：克里杜夏综合症的启示
Michiel Vanneste,Harold Matthews,Yoeri Sleyp et al.
Michiel Vanneste et al.
Purpose: Facial dysmorphism is a feature of many monogenic disorders and is important in diagnostics, variant interpretation and nosology. Nevertheless, comprehensively assessing the complex facial shape changes associate...
Validation of the pathology-adjusted Manchester scoring system in over 10 000 assessments of cases with breast and/or ovarian cancer [0.03%]
评估病理调整的曼彻斯特评分系统在万余例乳腺癌和/或卵巢癌患者中的验证研究
D Gareth Evans,Robert D Morgan,Claire Forde et al.
D Gareth Evans et al.
Background: Genetic testing for (likely) pathogenic variants (PVs) in BRCA1/BRCA2 has been performed in Manchester since 1996, with molecular methods/techniques and eligibility criteria changing over time. In 2004, UK Nat...
Genetic and embryonic transcriptome analyses reveal the molecular and developmental basis of Mayer-Rokitansky-Küster-Hauser syndrome [0.03%]
基因和胚胎转录组分析揭示了MayeRokitanskyKüsterHauser综合征的分子和发育基础
Na Chen,Xi Cheng,Sen Zhao et al.
Na Chen et al.
Background: Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is characterised by aplasia of the uterus, cervix and upper part of the vagina. The genetic aetiology remains incompletely understood. ...
No association of Alzheimer disease with the joint effect of HFE and TF in the mid-western Amish [0.03%]
HFE和TF的联合效应与阿米什人阿尔茨海默病无关
Yining Liu,Yeunjoo E Song,Audrey Lynn et al.
Yining Liu et al.