TY  - JOUR
AU  - Lopez, Javier
AU  - Coll, Jacobo
AU  - Haimel, Matthias
AU  - Kandasamy, Swaathi
AU  - Tarraga, Joaquin
AU  - Furio-Tari, Pedro
AU  - Bari, Wasim
AU  - Bleda, Marta
AU  - Rueda, Antonio
AU  - Graf, Stefan
AU  - Rendon, Augusto
AU  - Dopazo, Joaquin
AU  - Medina, Ignacio
PY  - 2017
DO  - 10.1093/nar/gkx445
SN  - 0305-1048
UR  - http://hdl.handle.net/10668/18959
T2  - Nucleic acids research
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...
LA  - en
PB  - Oxford univ press
KW  - Genetic-variation
KW  - Variants
KW  - Guidelines
KW  - Ontology
TI  - HGVA: the Human Genome Variation Archive
TY  - research article
VL  - 45
ER  -