Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML.

ABSTRACT:

Background

Recently, guidelines for variant interpretation in cancer have been established. However, these guidelines do not mention which databases are most suited to performing this task.

Materials and methods

We give an overview of existing databases and evaluate their benefit in practical application. We compared three meta-databases and 12 databases for a dataset of patients with myelodysplastic syndrome or acute myeloid leukemia.

Results

Clinical implications were found for 13% of all variants. One-third of variants with therapeutic implications were uniquely contained in one database. The VICC meta-database was the most extensive source of information, featuring 92% of variants with a drug association. However, a comparison of meta-databases and original source

SUBMITTER: Banck H 

PROVIDER: S-EPMC7943210 | biostudies-literature | 2021 Mar-Apr

REPOSITORIES: biostudies-literature