Smedley, Damian
Damian Smedley left the Sanger Institute to work as Director of Genomic Interpretation for Genomics England Limited on the 100000 Genomes Project. He is also a Senior Lecturer at Queen Mary University of London
Damian Smedley led a group of computational biologists that applied semantic similarity approaches to phenotype data to further our understanding of human disease.
The main focus of my research was in utilising phenotype data to diagnose diseases, discover novel disease genes, and identify suitable animal models for mechanistic and therapeutic studies.
In collaboration with Professor Peter Robinson, Charite University, Berlin and fellow members of the Monarch Initative, I led the development of a phenotype-aware approach to the analysis of disease genomes and exomes: the Exomiser software suite.
As part of the International Mouse Phenotyping Consortium, I led the production of disease pages that highlight the phenotypic similarites between the phenotyped mice and rare diseases.
Publications
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Phenotype-driven strategies for exome prioritization of human Mendelian disease genes.
Genome medicine 2015;7;1;81
PUBMED: 26229552; PMC: 4520011; DOI: 10.1186/s13073-015-0199-2
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Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.
Bioinformatics (Oxford, England) 2014;30;22;3215-22
PUBMED: 25078397; PMC: 4221119; DOI: 10.1093/bioinformatics/btu508
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Linking tissues to phenotypes using gene expression profiles.
Database : the journal of biological databases and curation 2014;2014;bau017
PUBMED: 24634472; PMC: 3982582; DOI: 10.1093/database/bau017
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Improved exome prioritization of disease genes through cross-species phenotype comparison.
Genome research 2014;24;2;340-8
PUBMED: 24162188; PMC: 3912424; DOI: 10.1101/gr.160325.113
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PhenoDigm: analyzing curated annotations to associate animal models with human diseases.
Database : the journal of biological databases and curation 2013;2013;bat025
PUBMED: 23660285; PMC: 3649640; DOI: 10.1093/database/bat025
