Yaron S.N. Butterfield
BC Cancer Agency, Canada's Michael Smith Genome Sciences Centre
Papers
2
Total Citations
51
H-Index
2
About
Dr. Yaron S.N. Butterfield is a leading computational biologist whose work has significantly advanced the accuracy and clinical utility of next-generation sequencing. His primary research focuses on the development and validation of diagnostic assays for hereditary cancer syndromes, particularly through the detection of BRCA1 and BRCA2 mutations. Dr. Butterfield’s most cited work, a 2013 study on a clinically validated second-generation sequencing assay for hereditary BRCA mutations (42 citations), established a robust framework for translating high-throughput sequencing into reliable clinical diagnostics. He has also pioneered innovative methods for sample tracking using unique sequence controls (2019, 9 citations), addressing a critical challenge in large-scale genomics—ensuring data integrity and preventing sample mix-ups. Beyond these contributions, Dr. Butterfield is recognized for his expertise in bioinformatics pipeline development and quality control, which have been instrumental in the success of major genomics initiatives. His work bridges the gap between cutting-edge sequencing technology and practical, reproducible clinical applications, making him a key figure in the field of precision medicine.
Research Focus
Key Achievements
Top Papers
- 1
- 2Sample Tracking Using Unique Sequence Controls9 citations · 2019