Are machine learning based methods suited to address complex biological problems? Lessons from CAGI-5 challenges [0.03%]
机器学习方法能有效解决复杂的生物学问题吗？CAGI-5 挑战赛的启示
Castrense Savojardo,Giulia Babbi,Samuele Bovo et al.
Castrense Savojardo et al.
In silico approaches are routinely adopted to predict the effects of genetic variants and their relation to diseases. The critical assessment of genome interpretation (CAGI) has established a common framework for the assessment of available...
CAGI experiments: Modeling sequence variant impact on gene splicing using predictions from computational tools [0.03%]
CAGI实验：利用计算工具的预测对基因剪接的序列变异影响进行建模
Valer Gotea,Gennady Margolin,Laura Elnitski
Valer Gotea
Improving predictions of phenotypic consequences for genomic variants is part of ongoing efforts in the scientific community to gain meaningful insights into genomic function. Within the framework of the critical assessment of genome interp...
A functional assay to classify ZBTB24 missense variants of unknown significance [0.03%]
一种用于分类意义未明的ZBTB24错义变异的功能性检测方法
Haoyu Wu,Kelly K D Vonk,Silvère M van der Maarel et al.
Haoyu Wu et al.
Increasing use of next-generation sequencing technologies in clinical diagnostics allows large-scale discovery of genetic variants, but also results in frequent identification of variants of unknown significance (VUSs). Their classification...
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy [0.03%]
SHOC2新型突变导致的RASopathies的临床和功能特征与胎儿期发生的肥厚型心肌病相关
Marialetizia Motta,Antonella Giancotti,Gioia Mastromoro et al.
Marialetizia Motta et al.
SHOC2 is a scaffold protein mediating RAS-promoted activation of mitogen-activated protein kinase (MAPK) signaling in response to extracellular stimuli. A recurrent activating mutation in SHOC2 (p.Ser2Gly) causes Mazzanti syndrome, a RASopa...
Case Reports
Human mutation. 2019 Aug;40(8):1046-1056. DOI:10.1002/humu.23767 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene [0.03%]
GNAT2基因突变感光障碍患者的临床及谱系分析研究
Julia Felden,Britta Baumann,Manir Ali et al.
Julia Felden et al.
Achromatopsia (ACHM) is a hereditary cone photoreceptor disorder characterized by the inability to discriminate colors, nystagmus, photophobia, and low-visual acuity. Six genes have been associated with this rare autosomal recessively inher...
Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology [0.03%]
TIMM50基因突变通过靶向线粒体生理的关键方面导致严重的线粒体功能障碍
Frederic Tort,Olatz Ugarteburu,Laura Texidó et al.
Frederic Tort et al.
3-Methylglutaconic aciduria (3-MGA-uria) syndromes comprise a heterogeneous group of diseases associated with mitochondrial membrane defects. Whole-exome sequencing identified compound heterozygous mutations in TIMM50 (c.[341 G>A];[805 G>A]...
The TALE homeodomain of PBX1 is involved in human primary testis-determination [0.03%]
PBX1的TALE同源框结构域参与人睾丸决定
Caroline Eozenou,Anu Bashamboo,Joelle Bignon-Topalovic et al.
Caroline Eozenou et al.
Human sex-determination is a poorly understood genetic process, where gonad development depends on a cell fate decision that occurs in a somatic cell to commit to Sertoli (male) or granulosa (female) cells. A lack of testis-determination in...
Case Reports
Human mutation. 2019 Aug;40(8):1071-1076. DOI:10.1002/humu.23780 2019
Functional classification of ATM variants in ataxia-telangiectasia patients [0.03%]
共济失调毛细血管扩张症患者ATM突变的功能分类
Alice Fiévet,Dorine Bellanger,Guillaume Rieunier et al.
Alice Fiévet et al.
Ataxia-telangiectasia (A-T) is a recessive disorder caused by biallelic pathogenic variants of ataxia-telangiectasia mutated (ATM). This disease is characterized by progressive ataxia, telangiectasia, immune deficiency, predisposition to ma...
Biallelic variants in DNA2 cause microcephalic primordial dwarfism [0.03%]
DNA2双等位基因变异导致原发性小头 Dwarfism
Žygimantė Tarnauskaitė,Louise S Bicknell,Joseph A Marsh et al.
Žygimantė Tarnauskaitė et al.
Microcephalic primordial dwarfism (MPD) is a group of rare single-gene disorders characterized by the extreme reduction in brain and body size from early development onwards. Proteins encoded by MPD-associated genes play important roles in ...
Case Reports
Human mutation. 2019 Aug;40(8):1063-1070. DOI:10.1002/humu.23776 2019
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing [0.03%]
与肥厚型心肌病相关的ELAC2突变会损害线粒体tRNA 3'-端加工
Makenzie Saoura,Christopher A Powell,Robert Kopajtich et al.
Makenzie Saoura et al.
Mutations in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified i...