Sean V. Tavtigian

机构：University of Utah, Huntsman Cancer Institute · ORCID：0000-0002-7543-8221

发表论文 275 篇 · 总被引 39855 次 · h-index 72

代表论文

• Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup (2023 · The American Journal of Human Genetics · 被引 355)
• ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification (2023 · The American Journal of Human Genetics · 被引 104)
• Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel (2024 · The American Journal of Human Genetics · 被引 100)
• CAGI, the Critical Assessment of Genome Interpretation, establishes progress and prospects for computational genetic variant interpretation methods (2024 · Genome biology · 被引 63)
• Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria (2025 · Genetics in Medicine · 被引 59)
• Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel (2023 · Genetics in Medicine · 被引 37)