Genotype-Phenotype Analysis of Patients with TUFT1 variants.
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Project Title
Project Lead Project DateResearch projects
Testing the “post-Mendelian” model developed by GEN-COVID network
The role of programmed axon death in neurological disease
Surveying disease-associated genetic variants in the 100,000 Genomes Project
Identification of coding and non-coding drivers pan cancer
Investigating genetic factors that influence an individual’s response to pharmaceutical products in the context of the COVID-19 pandemic
Genotype and phenotype of intellectual disability in adults
Validation of interpretable artificial intelligence algorithms for genetic diagnostics
NRG1 fusions in cancer: frequency, clinical and demographic characteristics, and fusion partners
Matching the disease-associated genomics data to the coding regions of microproteins, a new frontier of human proteome.
Examining how telomere dysfunction drives the evolution of the cancer genome
Characterisation of clonal haematopoiesis in patients with cancer
Application of long-read sequencing technologies to improve cancer diagnostics
The Genetic Causes of Cerebral Visual Impairment
Thorough investigation of whole-genome data for clinical case study diagnosis
Deconvoluting genomic variants associated with thoracic aortic disease in the 100,000 Genomes Project
Disease severity in Alport syndrome
De novo variants identification in epilepsy patients
Tumour heterogeneity and evolution in subtypes of ovarian cancer
Enhanced interpretation of coding and non-coding variants at the 3’ end of genes