Sean V. Tavtigian

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Improving variant classification through data aggregation and calibration

  Pathology · 2026-02-01

• Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants

  The American Journal of Human Genetics · 2025-09-17 · 4 citations

• When two plus four does not equal six: Combining computational and functional evidence to classify BRCA1 key domain missense substitutions

  The American Journal of Human Genetics · 2025-08-18 · 1 citations

• Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal CancerPreprint

  2025-07-16

• Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal CancerPreprint

  2025-05-13

• Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

  Genetics in Medicine · 2025-03-10 · 45 citations

• Functional Characterization of a Genetic Variant in the 5′ <scp>UTR</scp> of <scp><i>APC</i> 1B</scp> Promoter in a Familial Adenomatous Polyposis Family

  American Journal of Medical Genetics Part A · 2025-03-10 · 1 citations

• Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal CancerPreprint

  2025-02-18

• Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal CancerPreprint

  2025-02-13

• Table 4 from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal CancerPreprint

  2025-02-13

• Table 3 from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal CancerPreprint

  2025-02-13

• Table 1 from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal CancerPreprint

  2025-02-13

• Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal CancerPreprint

  2025-02-13

• Table 2 from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal CancerPreprint

  2025-02-13

• Supplementary Data from Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal CancerPreprint

  2025-02-13

• Exome Sequencing for Head and Neck Cancer Predisposition GenesPreprint

  medRxiv · 2025-01-22

• Variant of Uncertain Significance Patterns among Patients with Early-Onset Colorectal Cancer

  Cancer Research Communications · 2024-12-10 · 2 citations

• Identification of Individuals With Hereditary Cancer Risk Through Multiple Data Sources: A Population-Based Method Using the GARDE Platform and The Utah Population Database

  JCO Clinical Cancer Informatics · 2024-11-01 · 3 citations

• When Two plus Four Does Not Equal Six: Combining Computational and Functional Evidence to Classify BRCA1 Key Domain Missense Substitutions.Preprint

  medRxiv · 2024-10-10 · 1 citations

• Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS

  The American Journal of Human Genetics · 2024-10-01 · 15 citations