35. Evolution of a variant curation procedures in the open-access cancer variant interpretation knowledgebase CIViC

35. Evolution of a variant curation procedures in the open-access cancer variant interpretation knowledgebase CIViC

Kilannin Krysiak Abstract Kilannin Krysiaka, Arpad Danosa, Jason Salibaa, Susanna Kiwalaa, Adam Coffmana, Joshua McMichaela, Cameron Grisdaleb, Mariam Khanfara, Alex Wagnerc, Malachi Griffitha, Obi Griffitha aWashington University School of Medicine, St. Louis, MO,...
36. Gene Normalizer: A tool to resolve genetic ambiguity through data harmonization

52. ClinGen Pediatric Cancer Taskforce initiatives to advance pediatric clinical interpretations through expert curation

Jason Saliba Abstract aJason Saliba, Laura B. Corsonb, Jake Leverc, Shivani Golemd, Laveniya Satgunaseelane, David M. Meredithf, Cameron J. Grisdaleg, Kilannin Krysiaka, Mark G. Evansh, Minjie Luoi, Madina Sukhanovaj, Mariam T. Mathewk, Morteza Seifil, Heather E....
36. Gene Normalizer: A tool to resolve genetic ambiguity through data harmonization

69. Efficient clinical review of complex NGS tumor copy number profiles using ACMG/CGC guidelines and an interactive web app

Ellen Chen Ellen Chen is a rising senior at Rye Country Day School in New York. She is passionate about data science, art, and literature to accelerate precision medicine for cancer and rare disease. At Sema4, she designed and developed a web application, CNAEL, to...
36. Gene Normalizer: A tool to resolve genetic ambiguity through data harmonization

92. The ClinGen Somatic CDWG supports somatic variant curation and interpretation through structured guidance and procedures

Jason Saliba Dr. Jason Saliba is a Senior Scientist in the Griffith laboratory at the Washington University School of Medicine with over 10 years of experience in cancer research. Dr. Saliba’s research is focused on the development and improvement of protocols,...