Phenotype mining in CNV carriers from a population cohort.

TitlePhenotype mining in CNV carriers from a population cohort.
Publication TypeJournal Article
Year of Publication2011
AuthorsPietiläinen OPH, Rehnström K, Jakkula E, Service SK, Congdon E, Tilgmann C, Hartikainen A-L, Taanila A, Heikura U, Paunio T, Ripatti S, Jarvelin M-R, Isohanni M, Sabatti C, Palotie A, Freimer NB, Peltonen L
JournalHum Mol Genet
Date Published2011 Jul 1
KeywordsAdolescent, Adult, Child, Child, Preschool, Cohort Studies, Data Mining, Databases, Factual, DNA Copy Number Variations, Female, Finland, Genetic Association Studies, Genetic Drift, Genetics, Population, Haplotypes, Humans, Infant, Male, Phenotype, Polymorphism, Single Nucleotide, Sequence Deletion, Young Adult

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.

Alternate JournalHum. Mol. Genet.
PubMed ID21505072