TY - JOUR T1 - HGVA: the Human Genome Variation Archive. JF - Nucleic Acids Res Y1 - 2017 A1 - Lopez, Javier A1 - Coll, Jacobo A1 - Haimel, Matthias A1 - Kandasamy, Swaathi A1 - Tárraga, Joaquín A1 - Furio-Tari, Pedro A1 - Bari, Wasim A1 - Bleda, Marta A1 - Rueda, Antonio A1 - Gräf, Stefan A1 - Rendon, Augusto A1 - Dopazo, Joaquin A1 - Medina, Ignacio KW - Genetic Variation KW - Genome, Human KW - Humans KW - Internet KW - Software KW - User-Computer Interface AB -

High-profile genomic variation projects like the 1000 Genomes project or the Exome Aggregation Consortium, are generating a wealth of human genomic variation knowledge which can be used as an essential reference for identifying disease-causing genotypes. However, accessing these data, contrasting the various studies and integrating those data in downstream analyses remains cumbersome. The Human Genome Variation Archive (HGVA) tackles these challenges and facilitates access to genomic data for key reference projects in a clean, fast and integrated fashion. HGVA provides an efficient and intuitive web-interface for easy data mining, a comprehensive RESTful API and client libraries in Python, Java and JavaScript for fast programmatic access to its knowledge base. HGVA calculates population frequencies for these projects and enriches their data with variant annotation provided by CellBase, a rich and fast annotation solution. HGVA serves as a proof-of-concept of the genome analysis developments being carried out by the University of Cambridge together with UK's 100 000 genomes project and the National Institute for Health Research BioResource Rare-Diseases, in particular, deploying open-source for Computational Biology (OpenCB) software platform for storing and analyzing massive genomic datasets.

VL - 45 UR - https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/gkx445 IS - W1 U1 - https://www.ncbi.nlm.nih.gov/pubmed/28535294?dopt=Abstract ER -