Results 61 to 70 of about 215,087 (323)
Joint Haplotype Assembly and Genotype Calling via Sequential Monte Carlo Algorithm [PDF]
, 2015 Genetic variations predispose individuals to hereditary diseases, play important role in the development of complex diseases, and impact drug metabolism. The full information about the DNA variations in the genome of an individual is given by haplotypes,
Ahn, Soyeon, Vikalo, Haris
core +3 more sources
Advanced Science, EarlyView.DECENT is a deep learning method that enhances noninvasive preimplantation genetic testing by accurately reconstructing embryonic copy number variations (CNVs) from cell‐free DNA in spent embryo culture media. By mitigating maternal contamination, DECENT improves diagnostic accuracy, even with high contamination levels, offering a reliable, noninvasive
Zhenyi Zhang +3 more
wiley +1 more source
Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models. [PDF]
, 2020 Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder of unknown etiology. Clinical signs of neurological deficits develop within the first year of life in vitamin E (vitE) deficient ...
Dahlgren, Anna R +6 more
core +1 more source
Advanced Science, EarlyView.This work demonstrates the distinct roles of the glutamate formiminotransferase (GFT) enzyme in plants. The GFT triggers the conversion of 5‐methyl‐tetrahydrofolate to MeFox in plants, a process distinct from its role as a formiminotransferase in mammals.
Tong Lian +15 more
wiley +1 more source
The Development of Quality Control Genotyping Approaches: A Case Study Using Elite Maize Lines. [PDF]
PLoS ONE, 2016 Quality control (QC) of germplasm identity and purity is a critical component of breeding and conservation activities. SNP genotyping technologies and increased availability of markers provide the opportunity to employ genotyping as a low-cost and robust
Jiafa Chen +7 more
doaj +1 more source
Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study [PDF]
, 2007 BACKGROUND: Family studies and heritability estimates provide evidence for a genetic contribution to variation in the human life span. METHODS:We conducted a genome wide association study (Affymetrix 100K SNP GeneChip) for longevity-related traits in a ...
Benjamin, Emelia J +11 more
core +6 more sources
Transcriptome‐Wide Association Uncovers LncRNAs Controlling Seed Weight in Soybean
Advanced Science, EarlyView.This study employs transcriptome‐wide association studies (TWAS) to identify 201 long non‐coding RNAs (lncRNAs) associated with seed weight. Expression quantitative trait locus (eQTL) analysis reveals dynamic and static regulatory variants controlling lncRNA expression across development.
Xiang Wang +8 more
wiley +1 more source
Improved Imputation of Common and Uncommon Single Nucleotide Polymorphisms (SNPs) with a New Reference Set [PDF]
, 2011 Statistical imputation of genotype data is an important technique for analysis of genome-wide association studies (GWAS). We have built a reference dataset to improve imputation accuracy for studies of individuals of primarily European descent using ...
Amy Hutchinson +23 more
core +2 more sources
Advanced Science, EarlyView.Inflammatory dysregulation drives intervertebral disc degeneration via stage‐dependent immune cellular dynamics. Single‐cell transcriptomics and genetic risk mapping revealed a shift from LCN2high myeloid‐derived suppressor cells maintaining disc repair in early stages to IL1B+ macrophage‐dominated pathology in advanced disease.
Changmeng Zhang +6 more
wiley +1 more source
Arquivos de Gastroenterologia, 2012 CONTEXT: Genotyping of single nucleotide polymorphism (SNP C/T-13910) located upstream of the lactase gene is used to determine adult-type hypolactasia/lactase persistence in North-European Caucasian subjects.
Evelyn Mendoza Torres +3 more
doaj +1 more source