The Scottish Genomes Partnership - Edinburgh Research Explorer

Edinburgh Research Explorer

The Scottish Genomes Partnership

Project: Research

Aitman, Tim (Principal Investigator)

Status	Finished
Effective start/end date	1/02/16 → 29/02/20

Total award	£4,000,000.00
Funding organisation	UK central government bodies/local authorities, health and hospital authorities
Funder project reference	SGP/1

Period	1/02/16 → 29/02/20

Research outputs

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Research output: Contribution to journal › Article
DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency
Research output: Contribution to journal › Article
An actionable KCNH2 Long QT Syndrome variant detected by sequence and haplotype analysis in a population research cohort
Research output: Contribution to journal › Article
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions
Research output: Contribution to journal › Article