MARGINAL: An Automatic Classification of Variants in BRCA1 and BRCA2 Genes Using a Machine Learning Model.

Implementation of next-generation sequencing (NGS) for the genetic analysis of hereditary diseases has resulted in a vast number of genetic variants identified daily, leading to inadequate variant interpretation and, consequently, a lack of useful clinical information for treatment decisions. Herein, we present MARGINAL 1.0.0, a machine learning (ML)-based software for the interpretation of rare BRCA1 and BRCA2 germline variants. MARGINAL software classifies variants into three categories, namely, (likely) pathogenic, of uncertain significance and (likely) benign, implementing the criteria established by the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG-AMP). We first annotated BRCA1 and BRCA2 variants using various sources. Then, we automatically implemented the ACMG-AMP criteria, and we finally constructed the ML model for variant classification. To maximize accuracy, we compared the performance of eight different ML algorithms in a classification scheme based on a serial combination of two classifiers. The model showed high predictive abilities with maximum accuracy of 92% and 98%, recall of 92% and 98% and specificity of 90% and 98% for the first and second classifiers, respectively. Our results indicate that using a gene and disease-specific ML automated software for clinical variant evaluation can minimize conflicting interpretations.

A Platform for Health Record Management of the Conscripts in the Hellenic Navy.

eMass project aims to digitalize the medical examination procedure of recruitment phase of conscripts in the Hellenic Navy. eMass integrates recruits' Electronic Health Record (EHR), while allows a pre-screening test, through portable telemedicine equipment. The data will be exploited to assess the individual's cardiovascular risk through appropriate digital tools and algorithms. The eMass digital platform, will be accessible to health experts involved in the recruitment procedure for further assessment and processing. Recruits' personal data is stored in the database encrypted using Advanced Encryption Standard (AES). eMass solution contributes to beneficial management and medical data analysis, preventing inessential physical or medical examinations minimizing danger of possible errors and reducing time-consuming processes. Moreover, eMass exploits Electronic Health Record data through a machine-learning based cardiovascular risk assessment tool.