A5102839763- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Biomedical Text Mining and Ontologies
- Genetic Associations and Epidemiology
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
QIMR Berghofer Medical Research Institute
2023-2024
To determine if a variant identified by diagnostic genetic testing is causal for disease, applied genetics professionals evaluate all available evidence to assign clinical classification. Experimental assay data can provide strong functional or against pathogenicity in classification, but appears be underutilised. We surveyed Australasia assess their application of practice. Results indicated that survey respondents are not confident apply evidence, mainly due uncertainty around practice...
Abstract To date, clinical genetic testing and approaches to classify variants in Mendelian disease genes have focused heavily on exonic coding intronic gene regions. This multi-step study was undertaken provide an evidence base for selecting applying bioinformatic use classification of 5’ cis-regulatory region variants. Curated datasets rare clinically reported disease-causing variants, from matched genomic regions population controls, were used calibrate six tools as predictors variant...