Results 21 to 30 of about 2,216,855 (328)

Priors for Genotyping Polyploids [PDF]

Bioinformatics, 2019
AbstractMotivationEmpirical Bayes techniques to genotype polyploid organisms usually either (i) assume technical artifacts are knowna priorior (ii) estimate technical artifacts simultaneously with the prior genotype distribution. Case (i) is unappealing as it places the onus on the researcher to estimate these artifacts, or to ensure that there are no ...
Gerard, David, Ferrão, Luís Felipe Ventorim   +1 more
openaire   +4 more sources

Effect of Genotype-Guided Oral P2Y12 Inhibitor Selection vs Conventional Clopidogrel Therapy on Ischemic Outcomes After Percutaneous Coronary Intervention: The TAILOR-PCI Randomized Clinical Trial.

Journal of the American Medical Association (JAMA), 2020
Importance After percutaneous coronary intervention (PCI), patients with CYP2C19*2 or *3 loss-of-function (LOF) variants treated with clopidogrel have increased risk of ischemic events.
N. Pereira, M. Farkouh, D. So, R. Lennon, N. Geller, V. Mathew, M. Bell, J. Bae, M. Jeong, Ivan J. Chavez, Paul Gordon, J. Abbott, C. Cagin, L. Baudhuin, Yi-Ping Fu, S. Goodman, S. Goodman, Ahmed A Hasan, E. Iturriaga, A. Lerman, M. Sidhu, J. Tanguay, Liewei Wang, R. Weinshilboum, R. Welsh, Y. Rosenberg, K. Bailey, C. Rihal   +27 more
semanticscholar   +1 more source

Genotyping—From Genomic DNA to Genotype in a Single Tube [PDF]

Angewandte Chemie International Edition, 2005
AbstractNucleotide variations in the human genome, such as single‐nucleotide polymorphisms, have been researched more intensively since it became apparent that these deviations are linked to various diseases and also several side effects of drugs. The investigation of genomic DNA in the laboratory requires routine methods that are time‐, labour‐, and ...
Strerath, Michael, Marx, Andreas
openaire   +4 more sources

PhenoScanner: a database of human genotype–phenotype associations

Bioinform., 2016
Summary: PhenoScanner is a curated database of publicly available results from large-scale genetic association studies. This tool aims to facilitate ‘phenome scans’, the cross-referencing of genetic variants with many phenotypes, to help aid ...
James R. Staley, James A. Blackshaw, M. Kamat, Steve Ellis, P. Surendran, B. Sun, D. Paul, Daniel F. Freitag, S. Burgess, J. Danesh, R. Young, A. Butterworth   +11 more
semanticscholar   +1 more source

souporcell: Robust clustering of single cell RNAseq by genotype without reference genotypes

Nature Methods, 2020
Methods to deconvolve single-cell RNA-sequencing (scRNA-seq) data are necessary for samples containing a mixture of genotypes, whether they are natural or experimentally combined. Multiplexing across donors is a popular experimental design that can avoid
Haynes Heaton, A. Talman, Andrew J. Knights, M. Imaz, Daniel J. Gaffney, R. Durbin, M. Hemberg, M. Lawniczak   +7 more
semanticscholar   +1 more source

Predictability of IL-28B-polymorphism on protease-inhibitor-based triple-therapy in chronic HCV-genotype-1 patients: A meta-analysis

, 2014
AIM: To investigate the predictability of interleukin-28B single nucleotide polymorphism rs12979860 with respect to sustained virological response (SVR) in chronically hepatitis C virus (HCV) genotype-1 patients treated with a protease-inhibitor and ...
Amanzada, Ahmad, Cameron, Silke, Mechie, Nicolae-Catalin, Röver, Christian   +3 more
core   +1 more source

A Genotype-Guided Strategy for Oral P2Y12 Inhibitors in Primary PCI.

New England Journal of Medicine, 2019
BACKGROUND It is unknown whether patients undergoing primary percutaneous coronary intervention (PCI) benefit from genotype-guided selection of oral P2Y12 inhibitors.
Daniel M. F. Claassens, Gerrit J. A. Vos, T. Bergmeijer, R. Hermanides, A. W. van ’t Hof, P. van der Harst, E. Barbato, C. Morisco, R. M. Tjon Joe Gin, F. Asselbergs, A. Mosterd, J. Herrman, W. Dewilde, P. Janssen, J. Kelder, M. Postma, A. de Boer, C. Boersma, V. Deneer, J. T. ten Berg   +19 more
semanticscholar   +1 more source

Analysis of Genotype by Environment Interaction on Cocoa Hybrids (Theobroma Cacao L.) Resistance to Phytophthora Pod Rot [PDF]

, 2016
Phenomenon of genotype by environment interaction was able to influence the stability performance of cocoa resistance to Phytophthora pod rot (PPR).
Sari, I. A. (Indah), Setyawan, B. (Bayu), Soesilo, A. W. (Agung)   +2 more
core   +2 more sources

A Sub-Type of Familial Pancreatic Cancer: Evidence and Implications of Loss-of-Function Polymorphisms in Indoleamine-2,3-Dioxygenase-2. [PDF]

, 2018
BACKGROUND: Variation in an individual\u27s genetic status can impact the development of pancreatic ductal adenocarcinoma; however, the majority of familial pancreatic cancers (FPC) cannot yet be attributed to a specific inherited mutation.
Brody, Jonathan, Cozzitorto, Joseph A., Goetz, Austin, Lavu, Harish, Muller, Alexander J., Nevler, Avinoam, Prendergast, George C., Winter, Jordan M., Yeo, Charles, Yeo, Theresa P.   +9 more
core   +2 more sources

Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group

Clinical and Translational Science, 2019
Translating CYP2D6 genotype to metabolizer phenotype is not standardized across clinical laboratories offering pharmacogenetic (PGx) testing and PGx clinical practice guidelines, such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and ...
K. Caudle, K. Sangkuhl, Michelle Whirl‐Carrillo, J. Swen, Cyrine E. Haidar, T. Klein, Roseann S. Gammal, M. Relling, S. Scott, D. Hertz, H. Guchelaar, A. Gaedigk   +11 more
semanticscholar   +1 more source