Phenotype mining in CNV carriers from a population cohort

Research output: Contribution to journalArticle


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.


  • Olli P H Pietiläinen
  • Karola Rehnström
  • Eveliina Jakkula
  • Susan K. Service
  • Eliza Congdon
  • Carola Tilgmann
  • Anna Liisa Hartikainen
  • Anja Taanila
  • Ulla Heikura
  • Tiina Paunio
  • Samuli Ripatti
  • Marjo Riitta Jarvelin
  • Matti Isohanni
  • Chiara Sabatti
  • Aarno Palotie
  • Nelson B. Freimer
  • Leena Peltonen
External organisations
  • Wellcome Trust Sanger Institute
  • University of Helsinki
  • University of California System
  • University of Oulu
  • Finnish National Institute for Health and Welfare
  • Institute for Molecular Medicine Finland (FIMM)
  • Stanford University
  • Broad Institute
  • Helsinki University Central Hospital
Original languageEnglish
Article numberddr162
Pages (from-to)2686-2695
Number of pages10
JournalHuman Molecular Genetics
Issue number13
Publication statusPublished - 2011 Jul
Publication categoryResearch
Externally publishedYes