Author

Thomas Paul Slavin

City Of Hope National Medical CenterORCID 0000-0002-5370-1535Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genomics· 1

Signature Assays, Organisms & Methods

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Research Focus:benchmarking· 3 Approach:statistical model· 3 Organism:human· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Assay:whole-exome sequencing· 2 Research Focus:database / resource· 1 Research Focus:differential expression· 1

Frequent Co-Authors

Amanda B. SpurdleiD· 2 shared Tina F. PesaraniD· 2 shared Ahuva Odenheimer-Bergman· 1 shared Álvaro N.A. MonteiroiD· 1 shared Ann E. McCulloughiD· 1 shared Ann Katherine M. ForemaniD· 1 shared Barbara A. PockajiD· 1 shared Bhavika PateliD· 1 shared

Activity by Year

2019-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 18 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Amanda B. SpurdleORCID

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Author profile →

3 papers

Recent·Most cited

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants

Marcy E. Richardson, Megan A. Holdren, Terra Brannan, Miguel de la Hoya, Amanda B. Spurdle, Sean V. Tavtigian, Colin C. Young, Lauren Zec, Susan C. Hiraki, Michael J. Anderson, Logan C. Walker, Shannon M. McNulty, Clare Turnbull, Marc D. Tischkowitz, Katherine R. Schon, , Fergus J. Couch

The paper specifies gene-specific rules for interpreting ATM variants using ACMG/AMP guidelines, improving classification accuracy in a pilot study.

medRxiv · May 28, 2024 · PreprintGenetic & Genomic Medicine

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

Cristina Fortuño, Kristy Lee, Magali Olivier, Tina F. Pesaran, Phuong L. Mai, Kelvin C. de Andrade, Laura Donatella Attardi, Stephanie B. Crowley, D. Gareth Evans, Bing Feng, Ann Katherine M. Foreman, Megan N. Frone, Robert Huether, Paul Andrew James, Kelly McGoldrick, , the ClinGen TP53 Variant Curation Expert Panel

The paper specifies TP53-specific ACMG/AMP variant classification guidelines, reducing variants of uncertain significance from 28% to 12%.

Human Mutation · Dec 10, 2020Peer-reviewedGenetic & Genomic Medicine

Detection of residual disease after neoadjuvant therapy in breast cancer using personalized circulating tumor DNA analysis

Bradon R. McDonald, Tania Contente‐Cuomo, Stephen‐John Sammut, Ahuva Odenheimer-Bergman, Brenda J. Ernst, Nieves Perdigones, Suet‐Feung Chin, Maria Farooq, Rosa Mejia, Patricia A. Cronin, Karen S. Anderson, Heidi Kosiorek, DW Northfelt, Ann E. McCullough, Bhavika Patel, , Muhammed Murtaza

A personalized ctDNA test achieves high accuracy for residual disease detection after neoadjuvant therapy in breast cancer.

Science Translational Medicine · Aug 7, 2019Peer-reviewedGenomics