Results 51 to 60 of about 1,176,096 (345)

Feasibility of High-Throughput Genome-Wide Genotyping using DNA from Stored Buccal Cell Samples

Biomarker Insights, 2010
It is unclear if buccal cell samples contain sufficient human DNA with adequately sized fragments for high throughput genetic bioassays. Yet buccal cell sample collection is an attractive alternative to gathering blood samples for genetic epidemiologists
Stephanie J. Loomis, Lana M. Olson, Louis R. Pasquale, Janey Wiggs, Daniel Mirel, Andrew Crenshaw, Melissa Parkin, Brandon Rahhal, Stephanie Tetreault, Peter Kraft, Shelley S. Tworoger, Jonathan L. Haines, Jae H. Kang   +12 more
doaj   +1 more source

The efficacy of diuretics in complex treatment of patients with hypertension according to the Gly460Trp polymorphism of the α-adducin gene

Zaporožskij Medicinskij Žurnal, 2021
The aim of the study was to investigate the effect of thiazide diuretics on blood pressure (BP) depending on Gly460Trp ADD1 gene polymorphism in arterial hypertension (AH) patients of the Ukrainian population in order to predict their individual ...
S. A. Yermolenko, V. F. Orlovskyi, O. V. Orlovskyi, A. V. Zharkova, I. O. Moiseienko, A. V. Kolnohuz   +5 more
doaj   +1 more source

Genotyping of Transcriptomes links somatic mutations and cell identity

Nature, 2019
Defining the transcriptomic identity of malignant cells is challenging in the absence of surface markers that distinguish cancer clones from one another, or from admixed non-neoplastic cells.
Anna S. Nam, Kyu-Tae Kim, R. Chaligné, Franco Izzo, Chelston R Ang, Justin Taylor, Robert M. Myers, G. Abu-Zeinah, Ryan Brand, Nathaniel D. Omans, A. Alonso, Caroline Sheridan, Marisa Mariani, Xiaoguang Dai, E. Harrington, A. Pastore, J. Cubillos-Ruiz, W. Tam, R. Hoffman, R. Rabadán, J. Scandura, O. Abdel-Wahab, Peter Smibert, D. Landau   +23 more
semanticscholar   +1 more source

Development of High-Density Genetic Maps for Barley and Wheat Using a Novel Two-Enzyme Genotyping-by-Sequencing Approach

PLoS ONE, 2012
Advancements in next-generation sequencing technology have enabled whole genome re-sequencing in many species providing unprecedented discovery and characterization of molecular polymorphisms. There are limitations, however, to next-generation sequencing
J. Poland, P. Brown, M. Sorrells, J. Jannink   +3 more
semanticscholar   +1 more source

Prioritizing animals for dense genotyping in order to impute missing genotypes of sparsely genotyped animals [PDF]

Genetics Selection Evolution, 2014
Genotyping accounts for a substantial part of the cost of genomic selection (GS). Using both dense and sparse SNP chips, together with imputation of missing genotypes, can reduce these costs. The aim of this study was to identify the set of candidates that are most important for dense genotyping, when they are used to impute the genotypes of sparsely ...
Yu, Xijiang, Woolliams, John A, Meuwissen, Theo He   +2 more
openaire   +5 more sources

From omics to AI—mapping the pathogenic pathways in type 2 diabetes

FEBS Letters, EarlyView.
Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan, Lu Qi, Pierre Zalloua   +2 more
wiley   +1 more source

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

FEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile, Daniela Ratto, Giorgia Rastelli, Ottavia Eleonora Ferraro, Caterina Temporini, Sunil Kumar, Simona Boncompagni, Paola Rossi, Monica Canepari   +8 more
wiley   +1 more source

From lactation to malignancy: A comparison between healthy and cancerous breast gland at single‐cell resolution reveals new issues for tumorigenesis

FEBS Letters, EarlyView.
Single‐cell RNA sequencing reveals an opposite role of SLPI in basal tumors based on metastatic spread, along with shared activation of specific regulons in cancer cells and mature luminal lactocytes, as well as downregulation of MALAT1 and NEAT1 in the latter.
Pietro Ancona, Carlo M. Bergamini, Carlo Ferrari, Stefano Volinia, Nicoletta Bianchi   +4 more
wiley   +1 more source

WGS- versus ORF5-Based Typing of PRRSV: A Belgian Case Study

Viruses, 2021
Porcine reproductive and respiratory syndrome virus (PRRSV) is the causative agent of one of the most widespread and economically devastating diseases in the swine industry.
Frank Vandenbussche, Elisabeth Mathijs, Marylène Tignon, Tamara Vandersmissen, Ann Brigitte Cay   +4 more
doaj   +1 more source

RAD50 missense variants differentially affect the DNA damage response and mitotic progression

FEBS Letters, EarlyView.
RAD50 incorporates into the MRN complex and initiates the DNA damage response. Furthermore, RAD50 promotes mitotic progression. RAD50 missense variants capable of forming an MRN complex supported the DNA damage response and mitotic features to different extents in complementation experiments, indicating these functions are separable and might impact ...
Hanna Redeker, Swantje Kebel, Lea Völkening, Anna Vatselia, Louisa Weinhold, Girmay Asgedom, Axel Schambach, Detlev Schindler, Thilo Dörk, Kristine Bousset   +9 more
wiley   +1 more source