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Phenotype mining in CNV carriers from a population cohort

Pietiläinen, Olli P H; Rehnström, Karola; Jakkula, Eveliina; Service, Susan K.; Congdon, Eliza; Tilgmann, Carola LU ; Hartikainen, Anna Liisa; Taanila, Anja; Heikura, Ulla and Paunio, Tiina, et al. (2011) In Human Molecular Genetics 20(13). p.2686-2695
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... (More)

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. © The Author 2011. Published by Oxford University Press. All rights reserved.

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published
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Human Molecular Genetics
volume
20
issue
13
pages
10 pages
publisher
Oxford University Press
external identifiers
  • Scopus:79958720872
ISSN
0964-6906
DOI
10.1093/hmg/ddr162
language
English
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no
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accda940-53b9-406e-8021-20ec4c10c9e9
date added to LUP
2016-04-11 13:14:35
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2016-10-27 13:12:37
@misc{accda940-53b9-406e-8021-20ec4c10c9e9,
  abstract     = {<p>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 (&gt;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. © The Author 2011. Published by Oxford University Press. All rights reserved.</p>},
  author       = {Pietiläinen, Olli P H and Rehnström, Karola and Jakkula, Eveliina and Service, Susan K. and Congdon, Eliza and Tilgmann, Carola and Hartikainen, Anna Liisa and Taanila, Anja and Heikura, Ulla and Paunio, Tiina and Ripatti, Samuli and Jarvelin, Marjo Riitta and Isohanni, Matti and Sabatti, Chiara and Palotie, Aarno and Freimer, Nelson B. and Peltonen, Leena},
  issn         = {0964-6906},
  language     = {eng},
  number       = {13},
  pages        = {2686--2695},
  publisher    = {ARRAY(0xac13ca8)},
  series       = {Human Molecular Genetics},
  title        = {Phenotype mining in CNV carriers from a population cohort},
  url          = {http://dx.doi.org/10.1093/hmg/ddr162},
  volume       = {20},
  year         = {2011},
}