Genome-wide association study identified novel loci and gene-environment interaction for refractive error in children [0.03%]
儿童遗传性研究鉴定远视新颖基因位点及基因与环境的相互作用
Yuyao Wang,Yuzhou Zhang,Haoyu Chen et al.
Yuyao Wang et al.
To identify novel genetic loci for children refractive error, we performed a meta-analysis of two genome-wide association studies (GWASs) of spherical equivalent (SE) in 1,237 children from the population-based Hong Kong Children Eye Study ...
Genomic diversity in functionally relevant genes modifies neurodevelopmental versus neoplastic risks in individuals with germline PTEN variants [0.03%]
PTEN基因变异个体的功能相关基因组多样性修改神经发育与肿瘤风险
Adriel Y Kim,Lamis Yehia,Charis Eng
Adriel Y Kim
Individuals with germline PTEN variants (PHTS) have increased risks of the seemingly disparate phenotypes of cancer and neurodevelopmental disorders (NDD), including autism spectrum disorder (ASD). Etiology of the phenotypic variability rem...
An ultra-rare missense variant in the KIF1B gene linked to autoinflammatory Menière's disease [0.03%]
KIF1B基因罕见错义变异与自身免疫性美尼尔病相关
Pablo Cruz-Granados,Giselle Bianco-Bortoletto,Ismael Aran et al.
Pablo Cruz-Granados et al.
Menière's disease (MD) is an inner ear disorder characterised by episodes of vertigo, sensorineural hearing loss and tinnitus linked to autoinflammation and/or type 2 immune response. We hypothesise that rare variation in immune response g...
Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders [0.03%]
与GRIN相关神经发育障碍的基因表型关系探究
Jong Ho Cha,Jee Min Kim,Hee-Jeong Yun et al.
Jong Ho Cha et al.
The GRIN family is implicated in neurological disorders, such as global developmental delay (GDD) and epilepsy. We reviewed 31 patients with GRIN-related neurodevelopmental disorders at Seoul National University Hospital; all exhibited prof...
Novel germline and somatic variants in familial and sporadic meningioma genes [0.03%]
家族性和散发性脑膜瘤的新型胚系和体细胞变异基因
Bouchra Ouled Amar Bencheikh,Allison A Dilliott,Julie Gauthier et al.
Bouchra Ouled Amar Bencheikh et al.
Meningiomas arise from arachnoid cells in the meninges surrounding the brain and spinal cord and are attributed to NF2 pathogenic variants in, approximately 60% of cases. Using exome sequencing, we found heterozygous germline variants in ni...
Myelodysplastic syndrome diagnosed by genetic testing for hereditary cancer: a case report [0.03%]
遗传学检测发现的骨髓增生异常综合征1例报告
Sarah Ridd,Larissa Peck,Aniket Bankar et al.
Sarah Ridd et al.
Genetic testing for solid tumor syndromes typically uses peripheral blood leukocytes (PBL) as the source of germline DNA. This approach has shortcomings in certain situations, such as somatic mosaicism and hematologic malignancies. Here we ...
Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing [0.03%]
新生儿筛查和下一代测序鉴定的男性进行性多灶性白质脑病及肾上腺脊髓神经萎缩症患者研究
Alexandra C Keefe,Dana M Jensen,Meranda M Pham et al.
Alexandra C Keefe et al.
Somatic mosaicism produces genetic differences between cells in an individual and is an underrecognized contributor to phenotypic variability. Precise understanding of the natural history of genetic diseases, therefore, requires detection a...
TP53 minigene analysis of 161 sequence changes provides evidence for role of spatial constraint and regulatory elements on variant-induced splicing impact [0.03%]
对161种序列变化进行的TP53最小基因分析提供了空间约束和调节元件影响变异引起的剪接作用的证据
Daffodil M Canson,Inés Llinares-Burguet,Cristina Fortuno et al.
Daffodil M Canson et al.
We investigated the role of TP53 splicing regulatory elements (SREs) using exons 3 and 6 and their downstream introns as models. Minigene microdeletion assays revealed four SRE-rich intervals: c.573_598, c.618_641, c.653_669 and c.672+14_67...
Multi-omic integration sets the path for early prevention strategies on healthy individuals [0.03%]
多组学整合为健康个体的早期预防策略铺平道路
Dimitrios Kioroglou,Rubén Gil-Redondo,Nieves Embade et al.
Dimitrios Kioroglou et al.
Precision medicine requires biomarkers that stratify patients and improve clinical outcomes. Although longitudinal multi-omic analyses provide insights into pathological states, their utility in stratifying healthy individuals remains under...
An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis [0.03%]
离群值法：通过整合蛋白质组学指导外显子组重测序以促进神经疾病诊断的研究进展
Martin Man-Chun Chui,Anna Ka-Yee Kwong,Hiu Yu Cherie Leung et al.
Martin Man-Chun Chui et al.
Neurodevelopmental disorders (NDDs) often have unknown genetic causes. Current efforts in identifying disease-related genetic variants using exome or genome sequencing still lead to an excessive number of variants of uncertain significance ...