SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

ABSTRACT: Accurate classification of genetic variants is crucial for clinical decision-making in hereditary cancer. In Spain, genetic diagnostic laboratories have traditionally approached this task independently due to the lack of a dedicated resource. Here we present SpadaHC, a web-based database for sharing variants in hereditary cancer genes in the Spanish population. SpadaHC is implemented using a three-tier architecture consisting of a relational database, a web tool and a bioinformatics pipeline. Contributing laboratories can share variant classifications and variants from individuals in Variant Calling Format (VCF) format. The platform supports open and restricted access, flexible dataset submissions, automatic pseudo-anonymization, VCF quality control, variant normalization and liftover betw

SUBMITTER: Moreno-Cabrera JM 

PROVIDER: S-EPMC11223915 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature