Submit a disease variant to establish a connection
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Who can submit a gene?
Australian clinicians and diagnostic labs (including research diagnostic groups) discovering genes or variants of unknown significance (VUS/GUS) in patients, who want to connect with functional genomics researchers who can investigate the functions of those genes and/or the functional attributes of the gene variants.
Which genes/variants should be submitted?
The Network welcomes the submission of functional genomics studies in the following categories:
Stream 1: Assessing the impact of variants in known or novel disease genes
This will support the investigation of variants that change the coding sequence of a gene or variations that encompass genomic alternations likely to alter gene expression or splicing.
Projects may include:
- Investigating genetic changes in individuals with clinically diagnosed disease who lack mutations in known disease genes.
- Genetic lesions in known disease genes which do not reach the necessary threshold to provide diagnostic certainty but for which a compelling case for causation can be made. This might include a pattern of familial inheritance, de novo appearance and/or bioinformatic or other analyses that establish the potential impact on protein function or gene expression.
- Investigation of novel oligogenic mechanisms of disease in which pathology arises through cumulative effects of mutations in more than one disease gene in an affected individual.
Stream 2: Analysis of multiple variants in a single gene
For many known disease genes there are often significant numbers of potentially disease-causing variants which do not reach the current threshold for definitive genetic diagnosis.