Variant reclassification and clinical implications

N Walsh, A Cooper, A Dockery… - Journal of medical genetics, 2024 - jmg.bmj.com
Genomic technologies have transformed clinical genetic testing, underlining the importance
of accurate molecular genetic diagnoses. Variant classification, ranging from benign to …

Mutation types and pathogenicity classification using multi-label multi-class deep networks

RH Saloom, HK Khafaji - AIP Conference Proceedings, 2024 - pubs.aip.org
In recent years, considerable progress has been made in genomics and proteomics,
resulting in much biological data. To draw inferences from this data, advanced computer …