Sean V. Tavtigian

1. 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
2. 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
3. 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
4. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
   2019/05/27 by Michael T. Parsons, Emma Tudini, Hongyan Li +236 · 2 citations
   Biochemistry, Genetics and Molecular Biology · #BRCA gene mutations in cancer #Cancer Genomics and Diagnostics #Genomics and Rare Diseases