{"prefix":"sisu","name":"Sequencing Initiative Suomi","description":"The Sequencing Initiative Suomi (SISu) project is an international collaboration to harmonize and aggregate whole genome and exome sequence data from Finnish samples, providing data for researchers and clinicians. The SISu project allows for the search of variants to determine their attributes and occurrence in Finnish cohorts, and provides summary data on single nucleotide variants and indels from exomes, sequenced in disease-specific and population genetic studies.","pattern":"^[0-9]+:[0-9]+$","uri_format":"http://search.sisuproject.fi/#/variant/$1","providers":[],"homepage":"http://www.sisuproject.fi/","example":"17:41223048","example_extras":[],"deprecated":false,"mappings":{"biocontext":"SISU","miriam":"sisu","n2t":"sisu"},"synonyms":[],"keywords":[],"publications":[{"pubmed":"26030606","doi":"10.1371/journal.pone.0128524","pmc":"PMC4452275","title":"Targeted resequencing of the pericentromere of chromosome 2 linked to constitutional delay of growth and puberty","year":2015},{"pubmed":"25078778","doi":"10.1371/journal.pgen.1004494","pmc":"PMC4117444","title":"Distribution and medical impact of loss-of-function variants in the Finnish founder population","year":2014}],"appears_in":[],"depends_on":[],"namespace_in_lui":false,"preferred_prefix":"sisu"}