Amanda B. Spurdle - Genetic Mutations

Author Information

Amanda B. Spurdle is a prominent researcher affiliated with the Department of Genetics and Computational Biology at the QIMR Berghofer Medical Research Institute in Brisbane, Queensland, Australia. Her work focuses primarily on genetics, with a significant emphasis on understanding the genetic underpinnings of cancer.

Research Contributions

Amanda B. Spurdle has made substantial contributions to the field of genetics, particularly in the context of cancer research. Her recent work in 2022 includes studies on the classification of PMS2 variants in Lynch Syndrome, expanding the cancer risk profile for BRCA1 and BRCA2 pathogenic variants, and federated analysis of BRCA1 and BRCA2 variations in a Japanese cohort. She has also contributed to developing tools like the Splicing Prediction Pipeline (SPiP) to predict the effects of genetic variants on mRNA splicing, which is critical for understanding gene expression in cancer. Her research helps improve the classification criteria for pathogenic variants, offering insights into hereditary cancer risk and prevention strategies.

Aliases

Amanda B. Spurdle is known by several aliases, including A. B. Spurdle, A Spurdle, Amanda Spurdle, Amandab . Spurdle, A.b. Spurdle, A B Spurdle, and Amanda B Spurdle. These variations are commonly found in her publications and citations.

Publication and Citation Metrics

Metric Value
Total Citation Count 31,219
h-index 88
Total Paper Count 583

Publications:

DOI: 10.1038/s41523-021-00361-2

Year: 2022

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