title: Phenotype mining in CNV carriers from a population cohort.
abstract: Phenotype mining is a novel approach for elucidating the genetic basis of complex phenotypic variation. It involves a search of rich phenotype databases for measures correlated with genetic variation, as identified in genome-wide genotyping or sequencing studies. An initial implementation of phenotype mining in a prospective unselected population cohort, the Northern Finland 1966 Birth Cohort (NFBC1966), identifies neurodevelopment-related traits-intellectual deficits, poor school performance and hearing abnormalities-which are more frequent among individuals with large (>500 kb) deletions than among other cohort members. Observation of extensive shared single nucleotide polymorphism haplotypes around deletions suggests an opportunity to expand phenotype mining from cohort samples to the populations from which they derive.
authors.affiliation: Institute for Molecular Medicine Finland, and Department of Medical Genetics, University of Helsinki, Helsinki, Finland.
authors.forename: Olli P H
authors.initials: OP
authors.lastname: Pietiläinen
authors.forename: Karola
authors.initials: K
authors.lastname: Rehnström
authors.forename: Eveliina
authors.initials: E
authors.lastname: Jakkula
authors.forename: Susan K
authors.initials: SK
authors.lastname: Service
authors.forename: Eliza
authors.initials: E
authors.lastname: Congdon
authors.forename: Carola
authors.initials: C
authors.lastname: Tilgmann
authors.forename: Anna-Liisa
authors.initials: AL
authors.lastname: Hartikainen
authors.forename: Anja
authors.initials: A
authors.lastname: Taanila
authors.forename: Ulla
authors.initials: U
authors.lastname: Heikura
authors.forename: Tiina
authors.initials: T
authors.lastname: Paunio
authors.forename: Samuli
authors.initials: S
authors.lastname: Ripatti
authors.forename: Marjo-Riitta
authors.initials: MR
authors.lastname: Jarvelin
authors.forename: Matti
authors.initials: M
authors.lastname: Isohanni
authors.forename: Chiara
authors.initials: C
authors.lastname: Sabatti
authors.forename: Aarno
authors.initials: A
authors.lastname: Palotie
authors.forename: Nelson B
authors.initials: NB
authors.lastname: Freimer
authors.forename: Leena
authors.initials: L
authors.lastname: Peltonen
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D056915:DNA Copy Number Variations / Q000235:genetics*; D057225:Data Mining; D016208:Databases, Factual; D005260:Female; D005387:Finland; D056726:Genetic Association Studies; D040961:Genetic Drift; D005828:Genetics, Population; D006239:Haplotypes; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D055815:Young Adult