A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency [0.03%]
SLC22A5 5'UTR突变引发上游翻译起始密码子的生成是原发性肉碱缺乏症的主要原因
Sacha Ferdinandusse,Heleen Te Brinke,Jos P N Ruiter et al.
Sacha Ferdinandusse et al.
Primary carnitine deficiency is caused by a defect in the active cellular uptake of carnitine by Na+ -dependent organic cation transporter novel 2 (OCTN2). Genetic diagnostic yield for this metabolic disorder has been relatively low, sugges...
Assessment of methods for predicting the effects of PTEN and TPMT protein variants [0.03%]
评估预测PTEN和TPMT蛋白变异效应的方法的效果
Vikas Pejaver,Giulia Babbi,Rita Casadio et al.
Vikas Pejaver et al.
Thermodynamic stability is a fundamental property shared by all proteins. Changes in stability due to mutation are a widespread molecular mechanism in genetic diseases. Methods for the prediction of mutation-induced stability change have ty...
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment [0.03%]
NLGN3的新突变导致自闭症光谱障碍和认知功能减退
Angélique Quartier,Jérémie Courraud,Thuong Thi Ha et al.
Angélique Quartier et al.
The X-linked NLGN3 gene, encoding a postsynaptic cell adhesion molecule, was involved in a nonsyndromic monogenic form of autism spectrum disorder (ASD) by the description of one unique missense variant, p.Arg451Cys (Jamain et al. 2003). We...
Vinh S Le,Kien T Tran,Hoa T P Bui et al.
Vinh S Le et al.
Large scale human genome projects have created tremendous human genome databases for some well-studied populations. Vietnam has about 95 million people (the 14th largest country by population in the world) of which more than 86% are Kinh pe...
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency [0.03%]
大规模的功能性LIPA变异表征以改善酸性脂酶缺乏症出生患病率估计值
Guillermo Del Angel,Andrew T Hutchinson,Nina K Jain et al.
Guillermo Del Angel et al.
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive disorder caused by LIPA gene mutations that disrupt LAL activity. We performed in vitro functional testing of 149 LIPA variants to increase the understanding of the variant ef...
Identifying mutation-driven changes in gene functionality that lead to venous thromboembolism [0.03%]
识别驱动基因功能改变的突变以判断静脉血栓栓塞形成的原因
Yanran Wang,Yana Bromberg
Yanran Wang
Venous thromboembolism (VTE) is a common hematological disorder. VTE affects millions of people around the world each year and can be fatal. Earlier studies have revealed the possible VTE genetic risk factors in Europeans. The 2018 Critical...
Predicting pathogenicity of missense variants with weakly supervised regression [0.03%]
基于弱监督回归的错义变异致病性预测方法研究
Yue Cao,Yuanfei Sun,Mostafa Karimi et al.
Yue Cao et al.
Quickly growing genetic variation data of unknown clinical significance demand computational methods that can reliably predict clinical phenotypes and deeply unravel molecular mechanisms. On the platform enabled by the Critical Assessment o...
Assessment of patient clinical descriptions and pathogenic variants from gene panel sequences in the CAGI-5 intellectual disability challenge [0.03%]
CAGI2018第5期智力障碍挑战项目中来自基因组测序 Panel的患者临床表型描述和致病突变评估
Marco Carraro,Alexander Miguel Monzon,Luigi Chiricosta et al.
Marco Carraro et al.
The Critical Assessment of Genome Interpretation-5 intellectual disability challenge asked to use computational methods to predict patient clinical phenotypes and the causal variant(s) based on an analysis of their gene panel sequence data....
Predicting venous thromboembolism risk from exomes in the Critical Assessment of Genome Interpretation (CAGI) challenges [0.03%]
预测基因组解读批判评估（CAGI）挑战中的外显子静脉血栓栓塞风险
Gregory McInnes,Roxana Daneshjou,Panagiostis Katsonis et al.
Gregory McInnes et al.
Genetics play a key role in venous thromboembolism (VTE) risk, however established risk factors in European populations do not translate to individuals of African descent because of the differences in allele frequencies between populations....
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification [0.03%]
BRCA1和BRCA2变异的大规模多因素可能性量化分析：支持临床变异分类的ENIGMA资源
Michael T Parsons,Emma Tudini,Hongyan Li et al.
Michael T Parsons et al.
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes. Independent data types currently incorporated in the model for assessing BRCA1 a...