Results 11 to 20 of about 593,238 (360)
SNP+ to predict dropout rates in SNP arrays
AbstractGenotyping individuals using forensic or non-invasive samples such as hair or fecal samples increases the risk of allelic amplification failure (dropout) due to the low quality and quantity of DNA. One way to decrease genotyping errors is to increase the number of replicates per sample.
Sastre Alaiz, Natalia+2 more
openaire +3 more sources
Purpose: The development of sensitive and non-invasive biomarkers for the early detection of CRC and determination of their role in the individual stages of CRC.
Ivana Večurkovská+7 more
doaj +1 more source
SNPsyn: detection and exploration of SNP–SNP interactions [PDF]
SNPsyn (http://snpsyn.biolab.si) is an interactive software tool for the discovery of synergistic pairs of single nucleotide polymorphisms (SNPs) from large genome-wide case-control association studies (GWAS) data on complex diseases. Synergy among SNPs is estimated using an information-theoretic approach called interaction analysis.
Curk, Tomaz, Rot, Gregor, Zupan, Blaz
openaire +5 more sources
PTPN2 gene variants are associated with susceptibility to both Crohn's disease and ulcerative colitis supporting a common genetic disease background. [PDF]
Genome-wide association studies identified PTPN2 (protein tyrosine phosphatase, non-receptor type 2) as susceptibility gene for inflammatory bowel diseases (IBD).
Beigel, Florian+15 more
core +8 more sources
SNP-SNP interactions in breast cancer susceptibility [PDF]
AbstractBackgroundBreast cancer predisposition genes identified to date (e.g., BRCA1 and BRCA2) are responsible for less than 5% of all breast cancer cases. Many studies have shown that the cancer risks associated with individual commonly occurring single nucleotide polymorphisms (SNPs) are incremental.
Laurent Briollais+12 more
openaire +5 more sources
SNP interaction pattern identifier (SIPI): an intensive search for SNP–SNP interaction patterns [PDF]
Abstract Motivation Testing SNP–SNP interactions is considered as a key for overcoming bottlenecks of genetic association studies. However, related statistical methods for testing SNP–SNP interactions are underdeveloped.
Adam S. Kibel+47 more
openaire +6 more sources
SNP locator: a candidate SNP selection tool [PDF]
[Abstract] In this work, a data integration approach using a federated model based on a service oriented architecture (SOA) is presented. The BioMOBY middleware was used to implement each service which is part of the integration process. As an example of usage of this architecture, a web tool for candidate SNP selection has been developed.
Seoane, José A.+5 more
openaire +3 more sources
Osteoarthritis (OA) is the most common degenerative disease of the connective tissue of the human musculoskeletal system. Despite its widespread prevalence, there are many limitations in its diagnosis and treatment.
Marko Moravek+2 more
doaj +1 more source
GBS-SNP-CROP: a reference-optional pipeline for SNP discovery and plant germplasm characterization using variable length, paired-end genotyping-by-sequencing data [PDF]
Background: With its simple library preparation and robust approach to genome reduction, genotyping-by-sequencing (GBS) is a flexible and cost-effective strategy for SNP discovery and genotyping, provided an appropriate reference genome is available. For
Bartaula, Radhika+2 more
core +2 more sources
KLK3 SNP–SNP interactions for prediction of prostate cancer aggressiveness [PDF]
AbstractRisk classification for prostate cancer (PCa) aggressiveness and underlying mechanisms remain inadequate. Interactions between single nucleotide polymorphisms (SNPs) may provide a solution to fill these gaps. To identify SNP–SNP interactions in the four pathways (the angiogenesis-, mitochondria-, miRNA-, and androgen metabolism-related pathways)
Hui-Yi Lin+73 more
openaire +8 more sources