Publications by authors named "Amanda J Browne"
Article Synopsis
- Citizen science allows non-scientists to contribute to research, particularly in addressing issues relevant to their communities, typically designed by experienced scientists.
- Challenges arise when citizens try to design their own research due to limited training and access to necessary tools, which can lead to overlooked community experiences in health research.
- This approach engages participants from Grade 5 to adults in studying diet and disease using the genetics of Drosophila, empowering them to lead research projects and incorporate community relevance into the findings.
The cancer-predisposing Lynch Syndrome (LS) arises from germline mutations in DNA mismatch repair (MMR) genes, predominantly MLH1, MSH2, MSH6, and PMS2. A major challenge for clinical diagnosis of LS is the frequent identification of variants of uncertain significance (VUS) in these genes, as it is often difficult to determine variant pathogenicity, particularly for missense variants. Generic programs such as SIFT and PolyPhen-2, and MMR gene-specific programs such as PON-MMR and MAPP-MMR, are often used to predict deleterious or neutral effects of VUS in MMR genes.
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