Imperial College London
Alternate

ProfessorSylviaRichardson

Faculty of Medicine, School of Public Health

Visiting Professor
 
 
 
//

Contact

 

+44 (0)20 7594 3336sylvia.richardson Website

 
 
//

Assistant

 

Miss Sonia Kharbotli +44 (0)20 7594 3319

 
//

Location

 

161Norfolk PlaceSt Mary's Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Greene:2016:10.1016/j.ajhg.2016.01.008,
author = {Greene, D and NIHR, BioResource and Richardson, S and Turro, E},
doi = {10.1016/j.ajhg.2016.01.008},
journal = {American Journal of Human Genetics},
pages = {490--499},
title = {Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases},
url = {http://dx.doi.org/10.1016/j.ajhg.2016.01.008},
volume = {98},
year = {2016}
}
Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Rare genetic disorders, which can now be studied systematically with affordable genome sequencing, are often caused by high-penetrance rare variants. Such disorders are often heterogeneous and characterized by abnormalities spanning multiple organ systems ascertained with variable clinical precision. Existing methods for identifying genes with variants responsible for rare diseases summarize phenotypes with unstructured binary or quantitative variables. The Human Phenotype Ontology (HPO) allows composite phenotypes to be represented systematically but association methods accounting for the ontological relationship between HPO terms do not exist. We present a Bayesian method to model the association between an HPO-coded patient phenotype and genotype. Our method estimates the probability of an association together with an HPO-coded phenotype characteristic of the disease. We thus formalize a clinical approach to phenotyping that is lacking in standard regression techniques for rare disease research. We demonstrate the power of our method by uncovering a number of true associations in a large collection of genome-sequenced and HPO-coded cases with rare diseases.
AU  - Greene,D
AU  - NIHR,BioResource
AU  - Richardson,S
AU  - Turro,E
DO  - 10.1016/j.ajhg.2016.01.008
EP  - 499
PY  - 2016///
SN  - 1537-6605
SP  - 490
TI  - Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases
T2  - American Journal of Human Genetics
UR  - http://dx.doi.org/10.1016/j.ajhg.2016.01.008
UR  - http://hdl.handle.net/10044/1/40391
VL  - 98
ER  -
Download