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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 Inherited cancer predisposition

Mutational burden in the regulatory network of breast cancer susceptibility genes

Reclassification of variants of uncertain significance (VUS) in breast cancer risk genes from the Qatari hereditary cancer screening program

Genetic mechanisms in Tuberous Sclerosis (TSC) No mutation identified (NMI) patients

Association between neurofibromatosis type 1 loss-of-function mutation and prognostic outcomes in patients with cancer

SMARCA4 Variant Analysis

Using mutational signatures and functional genomics to classify breast cancer gene variants

Role of functional non coding variants in the germline contributing to ovarian cancer predisposition

Identifying genes and variants that predispose to multiple types of cancer

Genetic Predisposition to renal and neuroendocrine tumours

Genetic presisposition to multiple primary tumours

Exploring the Association between Germline Variants in CBFB and Familial Breast Cancer

Identifying variation-intolerant genomic ‘black holes’ in intronic and exonic regions

Aggregating variants into introns, exons and protein domains to highlight disease associated genomic regions

Using Cancer Phenotypes to Improve Cancer Susceptibility Gene Classification

Analysis of Fanconi Anaemia genes across 100K

Analysis of CDH1 and related genes across 100K

Landscape of Pathogenic Germline Variants in Cancer

Genetic Predisposition to Multiple Primary Cancers

Characterising predisposition to rhabdomyosarcomas and other DICER1-related childhood tumours

Genomic and chromosomal instability sequence markers in relation to fertility, early pregnancy and cancers of the reproductive tissues.

Inherited cancer predisposition research plan

Full details of the research proposed by this domain

Inherited cancer predisposition detailed research plan
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