Phenotype mining in CNV carriers from a population cohort

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 phenoty...

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Bibliographic Details
Published in:Human Molecular Genetics
Main Authors: Pietiläinen, Olli P. H., Rehnström, Karola, Jakkula, Eveliina, Service, Susan K., Congdon, Eliza, Tilgmann, Carola, Hartikainen, Anna-Liisa, Taanila, Anja, Heikura, Ulla, Paunio, Tiina, Ripatti, Samuli, Jarvelin, Marjo-Riitta, Isohanni, Matti, Sabatti, Chiara, Palotie, Aarno, Freimer, Nelson B., Peltonen, Leena
Format: Text
Language:English
Published: Oxford University Press 2011
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Article
Northern Finland
Online Access:http://hmg.oxfordjournals.org/cgi/content/short/ddr162v1
https://doi.org/10.1093/hmg/ddr162
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Summary: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.

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