Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.

Aitken, Stuart; Firth, Helen V; McRae, Jeremy; Halachev, Mihail; Kini, Usha; Parker, Michael J; Lees, Melissa M; Lachlan, Katherine; Sarkar, Ajoy; Joss, Shelagh; Splitt, Miranda; McKee, Shane; Németh, Andrea H; Scott, Richard H; Wright, Caroline F; Marsh, Joseph A; Hurles, Matthew E; FitzPatrick, David R; DDD Study,

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Authors

Aitken, Stuart

Firth, Helen V

McRae, Jeremy

Halachev, Mihail

Kini, Usha

Parker, Michael J

Lees, Melissa M

Publication Date

2019-11

Journal Title

American journal of human genetics

ISSN

0002-9297

Volume

105

Issue

Pages

933-946

Language

eng

Type

Article

This Version

VoR

Physical Medium

Print-Electronic

Metadata

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Citation

Aitken, S., Firth, H. V., McRae, J., Halachev, M., Kini, U., Parker, M. J., Lees, M. M., et al. (2019). Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data.. American journal of human genetics, 105 (5), 933-946. https://doi.org/10.1016/j.ajhg.2019.09.015

Keywords

DDD Study, Humans, Dwarfism, Genetic Predisposition to Disease, Spectrin, Repressor Proteins, Bayes Theorem, Developmental Disabilities, Gene Frequency, Heterozygote, Phenotype, Mutation, Child, Female, Male, Exome, Whole Exome Sequencing

Sponsorship

Wellcome Trust (091310/Z/10/Z)

Identifiers

External DOI: https://doi.org/10.1016/j.ajhg.2019.09.015

This record's URL: https://www.repository.cam.ac.uk/handle/1810/313939

Rights

Attribution-NonCommercial-NoDerivatives 4.0 International

Licence URL: https://creativecommons.org/licenses/by-nc-nd/4.0/

Except where otherwise noted, this item's licence is described as Attribution-NonCommercial-NoDerivatives 4.0 International