Results 211 to 220 of about 715,750 (339)

Elevated Soybean Seed Oil Phenotype Associated with a Single Nucleotide Polymorphism in <i>GmNFR1α</i>. [PDF]

Plants (Basel)
Patibandla SV, Carrero-Colón M, Song Q, Qin Q, Clevinger E, Zhu H, Maroof MAS, Hudson K.   +7 more
europepmc   +1 more source

Improving Genotype Imputation in High‐Dimensional Pharmacogenomics Using Multiple Imputation: Evaluation with Machine Learning Approaches

Clinical Pharmacology &Therapeutics, EarlyView.
Multiple imputation is well‐established for handling missing data, yet its use in high‐dimensional genetic datasets remains limited. Using pharmacokinetic tuberculosis simulations and SNP data (1000 Genomes Project), we compared machine learning (ML) and traditional approaches (e.g., mean imputation and complete‐case analysis) for imputation and ...
Innocent G. Asiimwe, Tao You, Daniel F. Carr, Munir Pirmohamed, Geraint Davies, Andrea L. Jorgensen, on behalf of the UNITE4TB Consortium   +6 more
wiley   +1 more source

Bidirectional 2-sample Mendelian randomization study of the causal relationship between hypothyroidism and cardiovascular diseases. [PDF]

Medicine (Baltimore)
Chi J, Qiu S, Ma W, Yan G, Xue Y.
europepmc   +1 more source

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

Cancer Research, 2005
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

Pharmacogenomics of Major Depressive Disorder in Indigenous Amazonian Populations

Clinical Pharmacology &Therapeutics, EarlyView.
Major depressive disorder is a highly prevalent psychological disorder worldwide and its main treatment is the use of Selective Serotonin Reuptake Inhibitors. However, few studies have demonstrated the relationship between the presence of genetic variants in pharmacogenes and the efficacy of these drugs, especially in populations with a unique genetic ...
Kaio Evandro Cardoso Aguiar, Natasha Monte da Silva, Juliana Carla Gomes Rodrigues, André Maurício Ribeiro‐dos‐Santos, Sandro José de Souza, Ândrea Ribeiro‐dos‐Santos, João Farias Guerreiro, Sidney Emanuel Batista dos Santos, Marianne Rodrigues Fernandes, Ney Pereira Carneiro dos Santos   +9 more
wiley   +1 more source

Association of Carboxypeptidase B2 Gene Polymorphisms With Graft Loss in Kidney Transplantation. [PDF]

Transplant Direct
Poppelaars F, Eskandari SK, Damman J, Frazer-Abel A, Holers VM, Dixon BP, Daha MR, Sanders JF, Seelen MA, Faria B, Gaya da Costa M, Thurman JM.   +11 more
europepmc   +1 more source

Preoperative Detection of Dual TERT Promoter Mutations in Thyroid Cancer: A Case Series

Diagnostic Cytopathology, EarlyView.
ABSTRACT Telomerase reverse transcriptase promoter (TERTp) mutations are associated with aggressive thyroid cancer and are most frequently found in anaplastic and poorly differentiated thyroid cancer. Pre‐operative thyroid nodule molecular testing can detect TERTp, denoting a high risk of malignancy and possible aggressive clinical features such as ...
Amir Harari, Jennifer Huiras, Yang Chen, Mohammed Alshalalfa, Yangyang Hao, Joshua P. Klopper, Richard T. Kloos, Bianca J. Vazquez   +7 more
wiley   +1 more source

Polymorphic variants in GABA-A receptor and their association with epilepsy and drug resistance: A North Indian cohort study. [PDF]

World J Psychiatry
Dabla PK, Singh S, Viswas A, Gupta S, Yadav M, Sonkar SC, Koner BC, Serdarevic N.   +7 more
europepmc   +1 more source

A Common Single Nucleotide Polymorphism Can Exacerbate Long-QT Type 2 Syndrome Leading to Sudden Infant Death

Circulation: Cardiovascular Genetics, 2010
E. Nof, J. Cordeiro, G. Pérez, F. Scornik, K. Calloe, B. Love, Elena Burashnikov, Gabriel Cáceres, Moshe Gunsburg, C. Antzelevitch   +9 more
semanticscholar   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source