02298nas a2200361   4500008004100000022001400041245004600055210004400101260001500145300001400160490000700174520132500181653002201506653001801528653001101546653001301557653001301570653002801583100001801611700001701629700002101646700002301667700002301690700002201713700001601735700001701751700001901768700001801787700002001805700002001825700002001845856007101865       2017                        eng d  a1362-496200aHGVA: the Human Genome Variation Archive.0 aHGVA the Human Genome Variation Archive  c2017 07 03  aW189-W1940 v453 a<p>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.</p>10aGenetic Variation10aGenome, Human10aHumans10aInternet10aSoftware10aUser-Computer Interface1 aLopez, Javier1 aColl, Jacobo1 aHaimel, Matthias1 aKandasamy, Swaathi1 aTárraga, Joaquín1 aFurio-Tari, Pedro1 aBari, Wasim1 aBleda, Marta1 aRueda, Antonio1 aGräf, Stefan1 aRendon, Augusto1 aDopazo, Joaquin1 aMedina, Ignacio  uhttps://academic.oup.com/nar/article-lookup/doi/10.1093/nar/gkx445