The advent of high-throughput genomic technologies is enabling analyses on thousands or even millions of single-nucleotide polymorphisms (SNPs). At the same time, the selection of a minimum number of SNPs with the maximum information content is becoming increasingly problematic. Available locus ranking programs have been accused of providing upwardly biased results (concerning the predicted accuracy of the chosen set of markers for population assignment), cannot handle high-dimensional datasets, and some of them are computationally intensive. The toolbox for ranking and evaluation of SNPs (TRES) is a collection of algorithms built in a user-friendly and computationally efficient software that can manipulate and analyze datasets even in the order of millions of genotypes in a matter of seconds. It offers a variety of established methods for evaluating and ranking SNPs on user defined groups of populations and produces a set of predefined number of top ranked loci. Moreover, dataset manipulation algorithms enable users to convert datasets in different file formats, split the initial datasets into train and test sets, and finally create datasets containing only selected SNPs occurring from the SNP selection analysis for later on evaluation in dedicated software such as GENECLASS. This application can aid biologists to select loci with maximum power for optimization of cost-effective panels with applications related to e.g. species identification, wildlife management, and forensic problems. TRES is available for all operating systems at http://mlkd.csd.auth.gr/bio/tres.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1093/jhered/esv044 | DOI Listing |
Sci Rep
January 2025
Department of Urology, The Second Hospital & Clinical Medical School, Lanzhou University, Lanzhou, 730030, People's Republic of China.
Benign prostatic hyperplasia (BPH) is a prevalent urinary system disorder. Despite evidence of a significant genetic component from previous studies, the specific pathogenic genes and biological mechanisms are still largely unknown. The study utilized the FinnGen R10 dataset, encompassing 177,901 individuals (36,601 cases and 141,300 controls), and the GTEx v8 EQTLs files to conduct single-tissue and cross-tissue transcriptome-wide association studies (TWAS).
View Article and Find Full Text PDFSci Rep
January 2025
Division of Pancreatic Surgery, Department of General Surgery, Qilu Hospital, Shandong University, Jinan, 250012, China.
Previous studies have found that dyslipidemia is a risk factor for pancreatic cancer (PC), and that lipid-lowering drugs may reduce the risk of PC. However, it is not clear whether dyslipidemia causes PC. The Mendelian randomization (MR) study aimed to investigate the causal role of lipid traits in pancreatic cancer and to assess the potential impact of lipid-lowering drug targets on pancreatic cancer.
View Article and Find Full Text PDFDisabil Health J
January 2025
Disability Policy Consortium, 25 Kingston St, 4th Floor, Boston, MA, 02111, USA. Electronic address:
In this paper, we examine the critical role of Ombudsman programs in facilitating the transition from Medicare-Medicaid Plans (MMPs) to Dual Special Needs Plans (D-SNPS) for dual-eligible members. As states implement this federally mandated transition, Ombudsman programs serve as essential supports for the dual-eligible population who are navigating complex healthcare changes. Through analysis of Ombudsman programs in California, Massachusetts, Rhode Island, and Michigan, we highlight how these services address beneficiary concerns, resolve access issues, and provide valuable insights to policymakers.
View Article and Find Full Text PDFBr J Anaesth
January 2025
Department of Clinical Chemistry, Erasmus Medical Center, Rotterdam, the Netherlands. Electronic address:
Background: Chronic postsurgical pain (CPSP) persists beyond the expected healing period after surgery, imposing a substantial burden on overall patient well-being. Unfortunately, CPSP often remains underdiagnosed and undertreated. To better understand the mechanism of CPSP development, we aimed to identify genetic variants associated with CPSP.
View Article and Find Full Text PDFHum Immunol
January 2025
The Second Affiliated Hospital of Guangxi Medical University, Department of Nephrology, Nanning, Guangxi 530021, China. Electronic address:
Background: Microscopic polyangiitis (MPA) is a severe multisystem autoimmune disease featured by small-vessel vasculitis with few or no immune complex, also has a significant genetic predisposition. Growing evidence has confirmed that STAT4 gene is tightly associated with multiple autoimmune diseases, but its contribution to MPA onset is still elusive.
Objective: The aim was to investigated the association between STAT4 gene polymorphisms (rs7572482, rs7574865 and rs12991409) and MPA susceptibility in a Guangxi population of China.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!