Results 141 to 150 of about 900,745 (376)

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays.

Cancer Research, 2005
We have developed a robust algorithm for copy number analysis of the human genome using high-density oligonucleotide microarrays containing 116,204 single-nucleotide polymorphisms.
Y. Nannya, M. Sanada, K. Nakazaki, N. Hosoya, Lili Wang, A. Hangaishi, M. Kurokawa, S. Chiba, D. Bailey, G. Kennedy, S. Ogawa   +10 more
semanticscholar   +1 more source

RAB3B Dictates mTORC1/S6 Signaling in Chordoma and Predicts Response to mTORC1‐Targeted Therapy

Advanced Science, EarlyView.
RAB3B is unveiled as a prominent oncogenic regulator in chordoma, which can block the DUSP12‐mediated dephosphorylation of p‐S6 (S235/236). The combination of RAB3B and p‐S6 indicates a good prognostic value and predicts mTORC1 inhibitors response for chordoma patients.
Jianxuan Gao, Jiali Jin, Runzhi Huang, Siqiao Wang, Sihui Song, Yu Zhang, Yongai Li, Jun Lin, Zhengyan Chang, Zongqiang Huang, Wei Sun, Huabin Yin, Dianwen Song, Jianru Xiao, Ping Wang, Tong Meng   +15 more
wiley   +1 more source

Statistical methods of SNP data analysis with applications [PDF]

arXiv, 2011
Various statistical methods important for genetic analysis are considered and developed. Namely, we concentrate on the multifactor dimensionality reduction, logic regression, random forests and stochastic gradient boosting. These methods and their new modifications, e.g., the MDR method with "independent rule", are used to study the risk of complex ...
arxiv  

Non-Association of Toll-Like Receptor 2 rs3804099 Polymorphism with Paediatric Tuberculosis in South Africa [PDF]

, 2019
Genetic polymorphisms are important risk factors that are involved in development and severity of disease infections especially tuberculosis. In this study, a non-synonymous single nucleotide polymorphism of immune response protein gene, toll-like ...
Udosen, Inyang U.
core   +1 more source

Origins, Dispersal, and Impact: Bidirectional Introgression Between Chinese and European Pig Populations

Advanced Science, EarlyView.
This study investigates bidirectional introgression between Chinese and European pig populations, revealing 3558 introgressed genomic segments and 30 structural variations. Analysis of the BMP2 region suggests its role in body size enhancement. By integrating ancient and modern genomes, the study highlights the impact of introgression on genetic ...
Yibin Qiu, Langqing Liu, Min Huang, Donglin Ruan, Rongrong Ding, Zebin Zhang, Enqin Zheng, Shiyuan Wang, Shaoxiong Deng, Xianglun Meng, Xinyan Cheng, Jiaxin Shi, Yingshan Yang, Fuchen Zhou, Sixiu Huang, Huaqiang Yang, Zicong Li, Gengyuan Cai, Zhenfang Wu, Jie Yang   +19 more
wiley   +1 more source

Population Fitness and Genetic Load of Single Nucleotide Polymorphisms Affecting mRNA splicing [PDF]

arXiv, 2011
Deleterious genetic variants can be evaluated as quantitative traits using information theory-based sequence analysis of recognition sites. To assess the effect of such variants, fitness and genetic load of SNPs which alter binding site affinity are derived from changes in individual information and allele frequencies.
arxiv  

ITPKC Single Nucleotide Polymorphism Associated with the Kawasaki Disease in a Taiwanese Population

PLoS ONE, 2011
Kawasaki disease (KD) is characterized by systemic vasculitis with unknown etiology. Previous studies from Japan indicated that a gene polymorphism of ITPKC (rs28493229) is responsible for susceptibility to KD.
Ho‐Chang Kuo, Kuender D Yang, S. Juo, C. Liang, Wei-Chiao Chen, Yu-Shiuan Wang, Chih-Hung Lee, E. Hsi, Hong-Ren Yu, P. Woon, I. Lin, Chien‐Fu Huang, Daw-Yang Hwang, Chiu-Ping Lee, Li-Yan Lin, Wei-Pin Chang, W.-C. Chang   +16 more
semanticscholar   +1 more source

Pushing the Frontiers: Artificial Intelligence (AI)‐Guided Programmable Concepts in Binary Self‐Assembly of Colloidal Nanoparticles

Advanced Science, EarlyView.
Colloidal nanoparticles self‐assembly advances towards intelligent, customized assembly through precise control of binary co‐assemblies. This review explores the evolution from monolithic to binary assemblies, highlighting how the AI‐guided programmable assembly approach has the potential to shift from passive assembly to active intelligent design.
Cancan Li, Lindong Ma, Zhenjie Xue, Xiao Li, Shan Zhu, Tie Wang   +5 more
wiley   +1 more source

A powerful global test for spliceQTL effects

Biometrical Journal, Volume 65, Issue 1, January 2023., 2023
Abstract Statistical methods to test for effects of single nucleotide polymorphisms (SNPs) on exon inclusion exist but often rely on testing of associations between multiple exon–SNP pairs, with sometimes subsequent summarization of results at the gene level. Such approaches require heavy multiple testing corrections and detect mostly events with large
Renee X. de Menezes, Armin Rauschenberger, BIOS Consortium, Peter A. C. 't Hoen, Marianne A. Jonker   +4 more
wiley   +1 more source

Single nucleotide polymorphism analysis in interstitial cystitis/painful bladder syndrome.

PLoS ONE, 2019
IntroductionInterstitial Cystitis (IC) is a chronic condition diagnosed based on the presence of symptoms, such as suprapubic/ pelvic pain, pressure or discomfort in association with urgency and increased urinary frequency.
Valter D Cassão, Sabrina T Reis, Ruan Pimenta, Marcos Lucon, Katia R M Leite, Miguel Srougi, Homero Bruschini   +6 more
doaj   +1 more source