RelCurator: a text mining-based curation system for extracting gene-phenotype relationships specific to neurodegenerative disorders.

Background: The identification of gene-phenotype relationships is important in medical genetics as it serves as a basis for precision medicine. However, most of the gene-phenotype relationship data are buried in the biomedical literature in textual form.

Objective: We propose RelCurator, a curation system that extracts sentences including both gene and phenotype entities related to specific disease categories from PubMed articles, provides rich additional information such as entity taggings, and predictions of gene-phenotype relationships.

Application of poly (vinyl alcohol)-cryogels to immobilizing nitrifiers: Enhanced tolerance to shear stress-induced destruction and viability control.

The hardness of poly (vinyl alcohol)-cryogels (PVA-CGs) was improved under three parameter conditions: 7.5 %-12.5 % PVA, 1-5 freezing-thawing cycles (FTCs), and the addition of 0 %-10 % glycerol as a cryoprotectant.

The Protein-Protein Interaction Network of Hereditary Parkinsonism Genes Is a Hierarchical Scale-Free Network.

Purpose: Hereditary parkinsonism genes consist of causative genes of familial Parkinson's disease (PD) with a locus symbol prefix ( genes) and hereditary atypical parkinsonian disorders that present atypical features and limited responsiveness to levodopa (non- genes). Although studies have shown that hereditary parkinsonism genes are related to idiopathic PD at the phenotypic, gene expression, and genomic levels, no study has systematically investigated connectivity among the proteins encoded by these genes at the protein-protein interaction (PPI) level.

Materials And Methods: Topological measurements and physical interaction enrichment were performed to assess PPI networks constructed using some or all the proteins encoded by hereditary parkinsonism genes (n=96), which were curated using the Online Mendelian Inheritance in Man database and literature.

PhenGenVar: A User-Friendly Genetic Variant Detection and Visualization Tool for Precision Medicine.

Precision medicine has been revolutionized by the advent of high-throughput next-generation sequencing (NGS) technology and development of various bioinformatic analysis tools for large-scale NGS big data. At the population level, biomedical studies have identified human diseases and phenotype-associated genetic variations using NGS technology, such as whole-genome sequencing, exome sequencing, and gene panel sequencing. Furthermore, patients' genetic variations related to a specific phenotype can also be identified by analyzing their genomic information.

Accuracy of Machine Learning Using the Montreal Cognitive Assessment for the Diagnosis of Cognitive Impairment in Parkinson's Disease.

Objective: The Montreal Cognitive Assessment (MoCA) is recommended for assessing general cognition in Parkinson's disease (PD). Several cutoffs of MoCA scores for diagnosing PD with cognitive impairment (PD-CI) have been proposed, with varying sensitivity and specificity. This study investigated the utility of machine learning algorithms using MoCA cognitive domain scores for improving diagnostic performance for PD-CI.

Combined machine learning and biomolecular analysis for stability assessment of anaerobic ammonium oxidation under salt stress.

In this study, the stability of the total nitrogen removal efficiency (TNRE) was modeled using an artificial neural network (ANN)-based binary classification model for the anaerobic ammonium oxidation (AMX) process under saline conditions. The TNRE was stabilized to 80.2 ± 11.

Dysregulation of the causative genes for hereditary parkinsonism in the midbrain in Parkinson's disease.

Background And Objectives: Many hereditary movement disorders with complex phenotypes without a locus symbol prefix for familial PD present as parkinsonism; however, the dysregulation of genes associated with these phenotypes in the SNpc of PD patients has not been systematically studied.

Methods: Gene set enrichment analyses were performed using 10 previously published genome-wide expression datasets obtained by laser-captured microdissection of pigmented neurons in the SNpc. A custom-curated gene set for hereditary parkinsonism consisting of causative genes (n = 78) related to disorders with a parkinsonism phenotype, but not necessarily idiopathic or monogenic PD, was constructed from the Online Mendelian Inheritance in Man database.