Results 21 to 30 of about 133,224 (273)
Matrix Completion and Performance Guarantees for Single Individual Haplotyping [PDF]
IEEE Transactions on Signal Processing 2019, 2018 Single individual haplotyping is an NP-hard problem that emerges when attempting to reconstruct an organism's inherited genetic variations using data typically generated by high-throughput DNA sequencing platforms. Genomes of diploid organisms, including humans, are organized into homologous pairs of chromosomes that differ from each other in a ...
arxiv +1 more source
Systemic circulating microRNA landscape in Lynch syndrome
International Journal of Cancer, Volume 152, Issue 5, Page 932-944, 1 March 2023., 2023 What's new? Systemic circulating microRNA expression patterns (c‐miRnomes) are altered during sporadic carcinogenesis and they have predictive potential in early cancer detection. However, their potential in carriers of inherited pathogenic mismatch‐repair gene variants associated with Lynch syndrome remains understudied.
Tero Sievänen +10 more
wiley +1 more source
Variable-length haplotype construction for gene-gene interaction studies [PDF]
IEEE Engineering in Medicine and Biology Magazine, 28(4), 25-31, 2013 This paper presents a non-parametric classification technique for identifying a candidate bi-allelic genetic marker set that best describes disease susceptibility in gene-gene interaction studies. The developed technique functions by creating a mapping between inferred haplotypes and case/control status. The technique cycles through all possible marker
arxiv +1 more source
A Bayesian Hierarchical Model for Detecting Haplotype-Haplotype and Haplotype-Environment Interactions in Genetic Association Studies [PDF]
Human Heredity, 2011 <i>Objective: </i>Genetic association studies based on haplotypes are powerful in the discovery and characterization of the genetic basis of complex human diseases. However, statistical methods for detecting haplotype-haplotype and haplotype-environment interactions have not yet been fully developed owing to the difficulties encountered ...
Nengjun Yi, Jun Li, Kui Zhang
openaire +3 more sources
iMeta, Volume 1, Issue 4, December 2022., 2022 We developed a tool to get high‐quality genomes with high taxonomic resolution by combining the cobarcoding information with public references. Compared with the conventional combination strategies, our pipeline generated a large number of high‐quality genomes for the human microbial cobarcoding data sets. Abstract Metagenomic evidence of great genetic
Yanwei Qi +12 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objectives An increasing body of evidence indicates altered DNA methylation in Parkinson's disease, yet the reproducibility and utility of such methylation changes are largely unexplored. We aimed to further elucidate the role of dysregulated DNA methylation in Parkinson's disease and to evaluate the biomarker potential of methylation‐based ...
Ingeborg Haugesag Lie +4 more
wiley +1 more source
Heterozygous variants in AP4S1 are not associated with a neurological phenotype
Annals of Clinical and Translational Neurology, EarlyView.Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz +9 more
wiley +1 more source
Journal of Biomedical Materials Research Part A, Volume 111, Issue 2, Page 185-197, February 2023., 2023 Abstract Type 1 diabetes (T1D) presents with two therapeutic challenges: the need to correct underlying autoimmunity and restore β‐cell mass. We harnessed the unique capacity of regulatory T cells (Tregs) and the T cell receptor (TCR) to direct tolerance induction along with tissue‐localized delivery of therapeutic agents to restore endogenous β‐cell ...
Gregory P. Marshall +7 more
wiley +1 more source
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi +8 more
wiley +1 more source
Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective The hereditary spastic‐ataxia spectrum disorders are a group of disabling neurological diseases. The traditional genetic testing pathway is complex, multistep and leaves many cases unsolved. We aim to streamline and improve this process using long‐read sequencing. Methods We developed a targeted long‐read sequencing strategy with the
Laura Ivete Rudaks +20 more
wiley +1 more source