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Carola Tilgmann

Driftchef

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Phenotype mining in CNV carriers from a population cohort

Författare

  • 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
Visa allt

Summary, in English

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.

Publiceringsår

2011-07

Språk

Engelska

Sidor

2686-2695

Publikation/Tidskrift/Serie

Human Molecular Genetics

Volym

20

Issue

13

Dokumenttyp

Artikel i tidskrift

Förlag

Oxford University Press

Status

Published

ISBN/ISSN/Övrigt

  • ISSN: 0964-6906