Standards and guidelines

VariO
(Variation Ontology) is an ontology for standardized, systematic description of effects, consequences and mechanisms of variations.
http://variationontology.org

MIASM
Minumum Information About Somatic Mutation
http://structure.bmc.lu.se/MIASM/miasm.html

HVP Guidelines
Gene/Disease Specific Variant Database Quality Parameters
http://www.humanvariomeproject.org/finish/19/255.html

Disclaimer Statements for Gene/Disease Specific Databases
http://www.humanvariomeproject.org/finish/19/273.html

Variant Terminology and Exon Numbering
http://www.humanvariomeproject.org/finish/19/352.html

Human Variome Project quality assessment criteria for variation databases.
Vihinen M, Hancock JM, Maglott DR, Landrum MJ, Schaafsma GCP, Taschner P, 2016. Hum Mutat. 37:549-558 PubMed

Guidelines for reporting and using prediction tools for genetic variation analysis.
Vihinen M, 2013. Hum Mutat. 34:275-282 PubMed

Guidelines for establishing locus specific databases.
Vihinen M, den Dunnen JT, Dalgleish R, Cotton RG, 2012. Hum Mutat 33:298-305 PubMed

Curating gene variant databases (LSDBs): toward a universal standard.
Celli J, Dalgleish R, Vihinen M, Taschner PEM, den Dunnen JT, 2012. Hum Mutat 33:291-297 PubMed

Human Variome Project country nodes: documenting genetic information within a country.
Patrinos GP, Smith TD, Howard H, Al-Mulla F, Chouchane L, Hadjisavvas A, Hamed SA, Li XT, Marafie M, Ramesar RS, Ramos FJ, de Ravel T, El-Ruby MO, Shrestha TR, Sobrido MJ, Tadmouri G, Witsch-Baumgartner M, Zilfalil BA, Auerbach AD, Carpenter K, Cutting GR, Dung VC, Grody W, Hasler J, Jorde L, Kaput J, Macek M, Matsubara Y, Padilla C, Robinson H, Rojas-Martinez A, Taylor GR, Vihinen M, Weber T, Burn J, Qi M, Cotton RG, Rimoin D; International Confederation of Countries Advisory Council, 2012. Hum Mutat 33:1513-1519 PubMed

Recommendations for locus-specific databases and their curation.
Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, Povey S, Rossetti S, Scriver CR, Summar M, Tolan DR, Verma IC, Vihinen M, den Dunnen JT, 2008. Hum Mutat 29:2-5 PubMed