title: The Finnish disease heritage database (FinDis) update-a database for the genes mutated in the Finnish disease heritage brought to the next-generation sequencing era.
abstract: The Finnish Disease Heritage Database (FinDis) (http://findis.org) was originally published in 2004 as a centralized information resource for rare monogenic diseases enriched in the Finnish population. The FinDis database originally contained 405 causative variants for 30 diseases. At the time, the FinDis database was a comprehensive collection of data, but since 1994, a large amount of new information has emerged, making the necessity to update the database evident. We collected information and updated the database to contain genes and causative variants for 35 diseases, including six more genes and more than 1,400 additional disease-causing variants. Information for causative variants for each gene is collected under the LOVD 3.0 platform, enabling easy updating. The FinDis portal provides a centralized resource and user interface to link information on each disease and gene with variant data in the LOVD 3.0 platform. The software written to achieve this has been open-sourced and made available on GitHub (http://github.com/findis-db), allowing biomedical institutions in other countries to present their national data in a similar way, and to both contribute to, and benefit from, standardized variation data. The updated FinDis portal provides a unique resource to assist patient diagnosis, research, and the development of new cures.
authors.affiliation: The Institute for Molecular Medicine Finland FIMM Technology Centre, University of Helsinki, Helsinki, Finland.
authors.forename: Anne
authors.initials: A
authors.lastname: Polvi
authors.forename: Henna
authors.initials: H
authors.lastname: Linturi
authors.forename: Teppo
authors.initials: T
authors.lastname: Varilo
authors.forename: Anna-Kaisa
authors.initials: AK
authors.lastname: Anttonen
authors.forename: Myles
authors.initials: M
authors.lastname: Byrne
authors.forename: Ivo F A C
authors.initials: IF
authors.lastname: Fokkema
authors.forename: Henrikki
authors.initials: H
authors.lastname: Almusa
authors.forename: Anthony
authors.initials: A
authors.lastname: Metzidis
authors.forename: Kristiina
authors.initials: K
authors.lastname: Avela
authors.forename: Pertti
authors.initials: P
authors.lastname: Aula
authors.forename: Marjo
authors.initials: M
authors.lastname: Kestilä
authors.forename: Juha
authors.initials: J
authors.lastname: Muilu
mesh_terms: D019295:Computational Biology / Q000379:methods; D030541:Databases, Genetic; D005387:Finland; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D023281:Genomics / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D020407:Internet; D009154:Mutation
keywords: Finland; LOVD; country node; database; variants