Quality analysis, ﬁltering and mapping of readings, standardization, annotation and analysis of gene variants. Refer to advanced analysis (trios, comparison of samples, etc.).
The use of the Genetracer Biotech pipeline for the analysis of transcriptome obtains excellent results in RNA-sequencing research & analysis. This service enables the quantification of differential gene expression analysis and provides variants of high quality (SNVs and indels), as well as prediction of the functional effect of these variants, their score through population-based databases (dbSNP, 1000Genomes, HapMap, ESP, DGVA, etc.) and pathologies (COSMIC, etc.). Additionally, this service allows the analysis of non-coding RNAs (miRNAs, lncRNAs, snoRNAs, etc.), the detection of isoforms from gene-splicing, fusion or post-transcriptional RNA editing, comparison among samples from the same study, or analysis of functional enrichment of gene ontology and pathways.
Integration of gene expression and bio-data into a data framework for clinical interpretation of somatic alterations. This analysis is based on a heuristic approach that incorporates clinical knowledge and prior scientific based on literature, treatment manuals and the opinion of experts
Through this service Genetracer Biotech offers in-depth experience ad knowledge in custom design of gene-panel and non-coding regions tailored to the specific needs of patients, as well as analysis and high- quality variant detection through proprietary Genetracer Biotech algorithms and pipelines.
Genetic-association Studies Analysis
Genome Association or gene-target analyses applied to genotype/phenotype relationships studies. These analyses are performed using gPLINK and Haploview, software together with a validation in parallel of the results of the GWASpi software.