Phenotype mining in CNV carriers from a population cohort
(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.
(Less)
- author
- publishing date
- 2011-07
- type
- Contribution to journal
- publication status
- published
- in
- Human Molecular Genetics
- volume
- 20
- issue
- 13
- article number
- ddr162
- pages
- 10 pages
- publisher
- Oxford University Press
- external identifiers
-
- pmid:21505072
- scopus:79958720872
- ISSN
- 0964-6906
- DOI
- 10.1093/hmg/ddr162
- language
- English
- LU publication?
- no
- id
- accda940-53b9-406e-8021-20ec4c10c9e9
- date added to LUP
- 2016-04-11 13:14:35
- date last changed
- 2024-03-06 20:47:01
@article{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 (>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.</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 = {{Oxford University Press}}, series = {{Human Molecular Genetics}}, title = {{Phenotype mining in CNV carriers from a population cohort}}, url = {{http://dx.doi.org/10.1093/hmg/ddr162}}, doi = {{10.1093/hmg/ddr162}}, volume = {{20}}, year = {{2011}}, }