HGVbase: a curated resource describing human DNA variation and phenotype relationships

Area of Science:

• Genomics
• Bioinformatics
• Human Genetics

Background:

• The Human Genome Variation Database (HGVbase) has served as a curated resource for human DNA variation for over five years.
• Previous versions facilitated research into DNA sequence variation and human phenotypes, adapting to growing data volumes and types.

Purpose of the Study:

• To describe the evolving features of HGVbase, focusing on its shift towards haplotype and phenotype information.
• To detail technological advancements enabling efficient storage and data mining of large, complex datasets for genome-phenome research.
• To highlight the importance of open data sharing and precise phenotype definitions for understanding complex diseases.

Main Methods:

• Database evolution and feature enhancement.
• Implementation of new technologies for data storage and mining.
• Curated data collection focusing on haplotypes, phenotypes, and their relationships.

Main Results:

• HGVbase has shifted its focus to include comprehensive haplotype and phenotype data.
• Technological choices have been made to support efficient management of large and complex datasets.
• The database is positioned as a global resource for genome-phenome data, incorporating association data.

Conclusions:

• The enhanced HGVbase is crucial for advancing the understanding of complex diseases.
• Open sharing and precise phenotype definitions are vital for overcoming challenges in genetic association studies.
• The database's technological infrastructure supports the growing complexity and volume of genomic and phenomic data.