@article {387,
	title = {HGVA: the Human Genome Variation Archive.},
	journal = {Nucleic Acids Res},
	volume = {45},
	year = {2017},
	month = {2017 Jul 03},
	pages = {W189-W194},
	abstract = {<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{\textquoteright}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>},
	keywords = {Genetic Variation, Genome, Human, Humans, Internet, Software, User-Computer Interface},
	issn = {1362-4962},
	doi = {10.1093/nar/gkx445},
	url = {https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/gkx445},
	author = {Lopez, Javier and Coll, Jacobo and Haimel, Matthias and Kandasamy, Swaathi and T{\'a}rraga, Joaqu{\'\i}n and Furio-Tari, Pedro and Bari, Wasim and Bleda, Marta and Rueda, Antonio and Gr{\"a}f, Stefan and Rendon, Augusto and Dopazo, Joaquin and Medina, Ignacio}
}
@article {560,
	title = {HPG pore: an efficient and scalable framework for nanopore sequencing data},
	journal = {BMC Bioinformatics},
	volume = {17},
	year = {2016},
	month = {Jan-12-2016},
	doi = {10.1186/s12859-016-0966-0},
	url = {http://www.biomedcentral.com/1471-2105/17/107http://link.springer.com/content/pdf/10.1186/s12859-016-0966-0},
	author = {T{\'a}rraga, Joaqu{\'\i}n and Gallego, Asunci{\'o}n and Arnau, Vicente and Medina, Ignacio and Dopazo, Joaquin}
}
@article {1195,
	title = {HPG pore: an efficient and scalable framework for nanopore sequencing data.},
	journal = {BMC bioinformatics},
	volume = {17},
	year = {2016},
	month = {2016},
	pages = {107},
	abstract = {BACKGROUND: The use of nanopore technologies is expected to spread in the future because they are portable and can sequence long fragments of DNA molecules without prior amplification. The first nanopore sequencer available, the MinION{\texttrademark} from Oxford Nanopore Technologies, is a USB-connected, portable device that allows real-time DNA analysis. In addition, other new instruments are expected to be released soon, which promise to outperform the current short-read technologies in terms of throughput. Despite the flood of data expected from this technology, the data analysis solutions currently available are only designed to manage small projects and are not scalable. RESULTS: Here we present HPG Pore, a toolkit for exploring and analysing nanopore sequencing data. HPG Pore can run on both individual computers and in the Hadoop distributed computing framework, which allows easy scale-up to manage the large amounts of data expected to result from extensive use of nanopore technologies in the future. CONCLUSIONS: HPG Pore allows for virtually unlimited sequencing data scalability, thus guaranteeing its continued management in near future scenarios. HPG Pore is available in GitHub at http://github.com/opencb/hpg-pore .},
	keywords = {hadoop, HPC, nanopore, NGS},
	issn = {1471-2105},
	doi = {10.1186/s12859-016-0966-0},
	url = {http://www.biomedcentral.com/1471-2105/17/107},
	author = {T{\'a}rraga, Joaqu{\'\i}n and Gallego, Asunci{\'o}n and Arnau, Vicente and Medina, Ignacio and Dopazo, Joaquin}
}
