Guidelines

Bioinformatiikan sanasto

ENGLISH-FINNISH VOCABULARY OF BIOINFORMATICS.

Curating gene variant databases (LSDBs): toward a universal standard. Pubmed

Celli J, Dalgleish R, Vihinen M, Taschner PEM, den Dunnen JT. Hum Mutat. 2012.

Guidelines for reporting and using prediction tools for genetic variation analysis. Pubmed

Vihinen M. Hum Mutat. 2013

Guidelines for establishing locus specific databases Pubmed

Vihinen M, den Dunnen JT, Dalgleish R, Cotton RG. Hum Mutat. 2012.

HVP Country Nodes Pubmed

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. Hum Mutat. 2012

Human Variome Project quality assessment criteria for variation databases. Pubmed

Vihinen M, Hancock JM, Maglott DR, Landrum MJ, Schaafsma GCP, Taschner P. Hum Mutat. 2016.

MIASM

Minumum Information About Somatic Mutation.

Recommendations for locus-specific databases and their curation. Pubmed

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. Hum Mutat. 2008.