Layers in the sand: The genetic imprint of migration, culture, and Indus craft in the Thar desert [0.03%]
沙层中的印迹：迁徙、文化与印度河文明对塔尔沙漠的基因影响
Rishabh Jain,Sachin M Rathod,Pankaj Jha et al.
Rishabh Jain et al.
The Thar Desert of Northwestern India, despite its harsh ecology, has sustained settlement of ancient crafts and pastoral communities. Their persistence provides a unique opportunity to study how migration, ecology, and culture have shaped ...
Genome Sequencing for the Diagnosis of Rare Disorders: The Brazilian Rare Genomes Project [0.03%]
基因组测序在罕见疾病诊断中的应用——巴西罕见基因组计划案例研究
Brazilian Rare Genomes Project Consortium;Antonio Victor Campos Coelho,Rafael Sales de Albuquerque,Catarina Dos Santos Gomes et al.
Brazilian Rare Genomes Project Consortium;Antonio Victor Campos Coelho et al.
Genome Sequencing (GS) has emerged as a transformative tool in the diagnosis of rare diseases with complex phenotypes. This technology uncovers structural, intronic, non-coding, and mitochondrial variants that traditional methods might miss...
Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction [0.03%]
DSCAM双等位基因失活变异导致眼球震颤和视网膜功能障碍的神经发育综合征
Sofia Douzgou Houge,Cecilie Bredrup,Ragnhild Wivestad Jansson et al.
Sofia Douzgou Houge et al.
DSCAM occupies a 1 Mb locus in the original Down syndrome critical region on chromosome 21q22 and encodes a neuronal cell adhesion molecule of importance for brain and eye development. Singleton individuals, both born to first-cousin parent...
Genetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice [0.03%]
小鼠ERK2的遗传激活可再现雷司病综合征的核心神经发育特征
Kassidy E Grover,Zoe R Cappel,Avery Volz et al.
Kassidy E Grover et al.
Germline pathogenic variants that activate the Ras/mitogen-activated protein kinase (MAPK) pathway cause neurodevelopmental disorders called 'Rasopathies'. Because many affected proteins directly regulate Ras, causative mutations may alter ...
Molecular dynamics simulations of intrinsically disordered protein regions enable biophysical interpretation of variant effect predictors [0.03%]
固有无序蛋白区域的分子动力学模拟能够对突变效应预测器进行生物物理解读
Aziz Zafar,Chao Hou,Naufa Amirani et al.
Aziz Zafar et al.
Predictive models for missense variant pathogenicity offer little functional interpretation for intrinsically disordered regions (IDRs), since they mostly leverage conservation and coevolution across homologous sequences. In our study, we u...
Functional and Computational Interrogation of the Juvenile Idiopathic Arthritis Risk Loci Identifies Candidate Risk-Driving SNPs and Target Genes in CD4+ T Cells [0.03%]
功能性及计算学探究青少年关节炎风险病灶鉴定CD4+T细胞中风险驱动SNPs和靶基因候选体
Kaiyu Jiang,Emma K Haley,Gilad Barshad et al.
Kaiyu Jiang et al.
GWAS have identified multiple genetic regions that confer risk for juvenile idiopathic arthritis (JIA). However, identifying the single nucleotide polymorphisms (SNPs) that drive disease risk has been impeded by the fact that the SNPs used ...
Diagnostic utility of clinical genome reanalysis in rare pediatric disorders using long-read sequencing [0.03%]
采用长读序列为罕见儿科疾病进行临床基因组重新分析的诊断效用
Elizabeth A Werren,Purva Vats,Gabriel E Rech et al.
Elizabeth A Werren et al.
Over half of presumed genetic disease cases remain undiagnosed following short-read exome (SR-ES) or genome sequencing (SR-GS). Long-read genome sequencing (LR-GS) shows promise for uncovering etiologies missed by SR genetic testing, partic...
Characterization of Von Hippel Lindau Gene Variants in an African American Cohort [0.03%]
Von Hippel Lindau基因变异在AA人群中的特征分析研究论文发表
Yusra F Shao,Diana Duque,Abdul-Rahman Alloghbi et al.
Yusra F Shao et al.
Autosomal dominant (AD) pathogenic/likely pathogenic (P/LP) variants in Von-Hippel Lindau (VHL) gene cause VHL disease. We characterize VHL variants and disease phenotypes in Black/African American (AA) patients, a demographic not as thorou...
CCAFE: Estimating Case and Control Allele Frequencies from GWAS Summary Statistics [0.03%]
基于GWAS汇总统计的病例和对照等位基因频率估计方法(CCAFE)
Hayley R Stoneman,Hugo Lemus Gomez,Adelle Price et al.
Hayley R Stoneman et al.
Genetic summary statistics can be used in a variety of analyses, such as causal inference, genetic correlation, and risk scores, to provide insights into the genetic architecture of conditions and traits. However, complete statistics are of...
Biallelic variants in CHCHD4 are associated with combined OXPHOS defect leading to mitochondrial disease [0.03%]
线粒体病候选基因CHCHD4的双等位基因变异与OXPHOS联合缺陷相关
Matthieu Mantecon,Cerina Chhuon,Kevin Roger et al.
Matthieu Mantecon et al.
Mitochondrial disorders show remarkable clinical and genetic heterogeneity, and result from variants in either mitochondrial- or nuclear-encoded genes. CHCHD4 is a component of the mitochondrial import and assembly pathway that imports smal...