Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing [0.03%]
基于基因面板分析的全基因组测序在公立医疗系统中对罕见遗传状况的应用：对未来检测的影响
Lynne J Hocking,Claire Andrews,Christine Armstrong et al.
Lynne J Hocking et al.
NHS genetics centres in Scotland sought to investigate the Genomics England 100,000 Genomes Project diagnostic utility to evaluate genome sequencing for in rare, inherited conditions. Four regional services recruited 999 individuals from 39...
Managing expectations, rights, and duties in large-scale genomics initiatives: a European comparison [0.03%]
大规模基因组学计划中的期望、权利和责任的管理：欧洲对比分析
Ruth Horn,Jennifer Merchant;UK-FR GENE Consortium
Ruth Horn
This article reports on the findings of an international workshop organised by the UK-France Genomics and Ethics Network (UK-FR GENE) in 2021. They focus specifically on how collection, storage and sharing of genomic data may pose challenge...
Correction to: Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye [0.03%]
校正：对先天性眼畸形的体细胞和（或）生殖细胞嵌合突变的评估
Bertrand Chesneau,Véronique Ivashchenko,Christophe Habib et al.
Bertrand Chesneau et al.
Alisdair McNeill
Alisdair McNeill
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss [0.03%]
LARS2变异在没有明显听力损失的情况下可表现为卵巢早衰
Anne Sophie Neyroud,Joëlle Rudinger-Thirion,Magali Frugier et al.
Anne Sophie Neyroud et al.
Premature ovarian insufficiency (POI) affects 1 in 100 women and is a leading cause of female infertility. There are over 80 genes in which variants can cause POI, with these explaining only a minority of cases. Whole exome sequencing (WES)...
ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes [0.03%]
ARHGAP35是人类发育眼表型中受损的一种新型因子
Linda M Reis,Nicolas Chassaing,Tanya Bardakjian et al.
Linda M Reis et al.
ARHGAP35 has known roles in cell migration, invasion and division, neuronal morphogenesis, and gene/mRNA regulation; prior studies indicate a role in cancer in humans and in the developing eyes, neural tissue, and renal structures in mice. ...
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort [0.03%]
外显子组测序数据的二次分析：在一种罕见疾病队列中检测移动元素插入事件
Philippine Garret,Martin Chevarin,Antonio Vitobello et al.
Philippine Garret et al.
About 0.3% of all variants are due to de novo mobile element insertions (MEIs). The massive development of next-generation sequencing has made it possible to identify MEIs on a large scale. We analyzed exome sequencing (ES) data from 3232 i...
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection' [0.03%]
给Tellier等人《对ESHG关于胚胎选择声明的科学反驳的回复》的回信
Francesca Forzano,Olga Antonova,Angus Clarke et al.
Francesca Forzano et al.
Examination of a novel expression-based gene-SNP annotation strategy to identify tissue-specific contributions to heritability in multiple traits [0.03%]
一种新型的基于基因表达的SNP注释策略在多种特征中识别组织特异性对遗传性贡献的鉴定方法研究
Travis J Mize,Luke M Evans
Travis J Mize
Complex traits show clear patterns of tissue-specific expression influenced by single nucleotide polymorphisms (SNPs), yet current strategies aggregate SNP effects to genes by employing simple physical proximity-based windows. Here, we exam...
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability [0.03%]
比较唾液和血液在检测导致综合征性智力障碍的嵌合基因组异常中的应用
David I Francis,Zornitza Stark,Ingrid E Scheffer et al.
David I Francis et al.
We aimed to determine whether SNP-microarray genomic testing of saliva had a greater diagnostic yield than blood for pathogenic copy number variants (CNVs). We selected patients who underwent CMA testing of both blood and saliva from 23,289...