IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders
Open Access
- 24 November 2022
- journal article
- research article
- Published by Elsevier in Human Genetics and Genomics Advances
- Vol. 4 (1) , 100162
Abstract
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Funding Information
- National Institute for Health and Care Research
- Department of Health and Social Care
- University of Edinburgh
- Medical Research Council (MC_UU_00007/16)
- Wellcome Trust (200990/Z/16/Z, HICF-1009-003)
This publication has 27 references indexed in Scilit:
- Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyGenetics in Medicine, 2016
- Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 familiesNature Genetics, 2015
- The Human Phenotype Ontology: Semantic Unification of Common and Rare DiseaseThe American Journal of Human Genetics, 2015
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research dataThe Lancet, 2015
- Phen-Gen: combining phenotype and genotype to analyze rare disordersNature Methods, 2014
- Diagnostically relevant facial gestalt information from ordinary photoseLife, 2014
- The Deciphering Developmental Disorders (DDD) studyDevelopmental Medicine & Child Neurology, 2011
- Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in OntologiesThe American Journal of Human Genetics, 2009
- DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl ResourcesThe American Journal of Human Genetics, 2009
- Estimating the Error Rate of a Prediction Rule: Improvement on Cross-ValidationJournal of the American Statistical Association, 1983