Demetra Application: An integrated genotype analysis web server for clinical genomics in endometriosis.

ABSTRACT: Demetra Application is a holistic integrated and scalable bioinformatics web‑based tool designed to assist medical experts and researchers in the process of diagnosing endometriosis. The application identifies the most prominent gene variants and single nucleotide polymorphisms (SNPs) causing endometriosis using the genomic data provided for the patient by a medical expert. The present study analyzed >28.000 endometriosis‑related publications using data mining and semantic techniques aimed towards extracting the endometriosis‑related genes and SNPs. The extracted knowledge was filtered, evaluated, annotated, classified, and stored in the Demetra Application Database (DAD). Moreover, an updated gene regulatory network with the genes implements in endometriosis was established. This was foll

SUBMITTER: Papageorgiou L 

PROVIDER: S-EPMC8083807 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature