Steven M. Harrison
- Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
2022/11/21 by Vikas Pejaver, Alicia B. Byrne, Bing-Jian Feng +27 · 42 citations
Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Cancer Genomics and Diagnostics #Genomic variations and chromosomal abnormalities
- Genomic data in the All of Us Research Program
2024/02/19 by Manuscript Writing Group, Alexander G. Bick, Ginger Metcalf +93 · 1 voice · 30 citations
Biochemistry, Genetics and Molecular Biology · #Cancer Genomics and Diagnostics #Genetic Associations and Epidemiology #Genomics and Rare Diseases
- Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
2020/07/28 by Sean V. Tavtigian, Steven M. Harrison, Kenneth M. Boucher +1 · 7 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Genetic Associations and Epidemiology #Genetic factors in colorectal cancer #Genomics and Rare Diseases
- Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
2019/12/31 by Sarah E. Brnich, Ahmad Abou Tayoun, Fergus J. Couch +12 · 1 voice · 5 citations
Biochemistry, Genetics and Molecular Biology · #Genomics and Rare Diseases #Genetic Associations and Epidemiology #Cancer Genomics and Diagnostics
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation
2018/10/11 by Edgar A. Rivera‐Muñoz, E. Andres Rivera-Munoz, Laura V. Milko +25 · 5 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Cancer Genomics and Diagnostics #Genetic factors in colorectal cancer #Genomics and Rare Diseases
- Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
2018/09/07 by Ahmad N. Abou Tayoun, Tina Pesaran, Marina T. DiStefano +4 · 1 citation