Genotype-phenotype association analysis identifies the role of α globin genes in modulating disease severity of β thalassaemia intermedia in Sri Lankaβ thalassaemia intermedia (βTI) are a heterogeneous group of disorders known to be extremely phenotypically diverse. This group is more complex to ...
Genotype/phenotype association analyses (Treescan) with plasma lipid levels and functional site prediction methods (TreeSAAP and PolyPhen) were performed using sequence data for ANGPTL4 from 3,551 patients in the Dallas Heart Study. Biological assays of rare variants in phenotypic tails and results fr...
We show that evolution of semenogelin II is significantly associated with mating systems whereas two negative control genes (cytochrome b and peptidase inhibitor 3) show no significant association. This provides the first hybrid substitution model of which we are aware to directly test the ...
GeneticsandpopulationanalysisAdvanceAccesspublicationSeptember24,2010 RAPIDdetectionofgene–geneinteractionsingenome-wide associationstudies DumitruBrinza 1 ,MatthewSchultz 2 ,GlennTesler 3 and Vineet Bafna 4,∗ 1 Life Technologies, Foster City, CA, 2 Graduate Bioinformatics Program, 3 Department of Mathemat...
Renzhi Wang, Yakun Yang, Miaomiao Sheng, Dechao Bu, Fengming Huang, Xiaohai Liu, Cuiqi Zhou, Congxin Dai, Bowen Sun, Jindong Zhu, Yi Qiao, Yong Yao, HuiJuan Zhu, Lin Lu,Yi Zhao‡, Chengyu Jiang‡Phenotype-Genotype Association Analysis of ACTH-Secreting Pituitary Adenoma and Its Molecu...
In all cases, a systematic histopathological analysis revealed an association between GATOR1 variants DEPDC5 and NPRL3 with FCD ILAE type IIa (Table 1). In contrast, five specimens with MTOR variants also revealed balloon cells, defining them as FCD ILAE type IIb. Three individuals with MTOR ...
but also allowed us to discover plausible adaptive convergence from a genome-scale dataset without a pre-existing hypothesis. The genotypes detected by molecular convergence analysis provide opportunities for the phenotypic association, mechanistic assessment and experimental validation in vivo. This holds ev...
India is not a well-studied ethnic group, hence the focus on congenital aniridia gene analysis supports the literature and the phenotypic association were analysed both in sporadic as well as familial. The consistent association of truncating PAX6 mutations with the phenotype is owing to non-sense...
In two patients, analysis was uninformative. In 43 patients with a de novo deletion, the deletion was present on the paternal (33 patients, 76.7%) or maternal (10 patients, 23.3%) chromosome. Statistical analysis Statistical analysis including contingency analysis of association between genotype and...
来源期刊 Pediatric nephrology: journal of the International Pediatric Nephrology Association 研究点推荐 Genotype-phenotype analysis WT1 glomerulopathy pediatric patients 站内活动 0关于我们 百度学术集成海量学术资源,融合人工智能、深度学习、大数据分析等技术,为科研工作者提供全面快捷的学术服务。在这里我们保持...