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Academic research community (GECIP)

Academics, clinicians, and students worldwide can join our research community, the Genomics England Clinical Interpretations Partnership (GECIP, for short).

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Research projects by domain

Select from the domains and explore our active research projects.

Research projects for Enhanced interpretation

Genotype-Phenotype Analysis of Patients with TUFT1 variants.

Validation of interpretable artificial intelligence algorithms for genetic diagnostics

Enhanced interpretation of coding and non-coding variants at the 3’ end of genes

Exomiser performance and new diagnoses for the 100,000 Genomes Project RD cohort

Prevalence of genetic forms of Dilated Cardiomyopathy (DCM)

Identifying additional genomic variants within the promoter region of the TXNL4A gene associated with the spliceosomal developmental disorder Burn-McKeown syndrome.

Genotype-Phenotype Analysis of Patients with ING3 variants.

Genotype-Phenotype Analysis of Patients with HNRNPDL variants.

Genotype-Phenotype Analysis of Patients with WSB2 variants.

Genotype-Phenotype Analysis of Patients with C12orf66 variants.

Genotype-Phenotype Analysis of Patients with XPO7 variants.

Genotype-Phenotype Analysis of Patients with NEUROG2 variants.

Impact of structural variants detection on biomarker discovery and target identification efforts.

Assessing the prevalence of premature stop codons in diseases for potential indication expansion for an early phase drug development program.

Understanding the genotype-phenotypic spectrum in GSN-related amyloidosis

Characterizing the phenotype associated with HDAC2 variants

CamBridge: Linking human disease genetics to cell biology

Diagnosis of Rare Disease using Whole Genome Sequencing as part of Routine Healthcare

Clinical delineation of TSPEAR-associated ectodermal dysplasia.

Genomics England consultancy project proposal for PTC Therapeutics: Identification of individuals with likely Aromatic l-aminoacid decarboxylase (AADC) deficiency based on DDC variation in the Genomics England dataset

Enhanced interpretation research plan

Full details of the research proposed by this domain

Enhanced interpretation detailed research plan
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