526 results on '"Tavtigian, Sean V."'
Search Results
2. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
3. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
4. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
5. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
6. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
7. Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions
8. First international workshop of the ATM and cancer risk group (4-5 December 2019)
9. Identification of Individuals With Hereditary Cancer Risk Through Multiple Data Sources: A Population-Based Method Using the GARDE Platform and The Utah Population Database.
10. Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome
11. Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants
12. Distinct Molecular Phenotype of Sporadic Colorectal Cancers Among Young Patients Based on Multiomics Analysis
13. A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome
14. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
15. Mobile element insertions and associated structural variants in longitudinal breast cancer samples
16. A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
17. Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
18. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
19. Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes
20. Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma
21. Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
22. Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants
23. Clinical Multigene Panel Testing Identifies Racial and Ethnic Differences in Germline Pathogenic Variants Among Patients With Early-Onset Colorectal Cancer
24. Correspondence on “Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)” by Riggs et al
25. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
26. Supplementary Table 3 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers
27. Supplementary Figure 1 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers
28. Supplementary Table 2 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers
29. Supplementary Table 1 from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers
30. Data from Rare Mutations in RINT1 Predispose Carriers to Breast and Lynch Syndrome–Spectrum Cancers
31. Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families
32. Supplementary Figure S1 from Functional Evaluation and Cancer Risk Assessment of BRCA2 Unclassified Variants
33. Racial/ethnic differences of germline pathogenic variants in cancer susceptibility genes among patients with early-onset colorectal cancer.
34. Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer
35. Unclassified Variants in the Breast Cancer Susceptibility Genes BRCA1 and BRCA2
36. Pancreatic cancer as a sentinel for hereditary cancer predisposition
37. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
38. A calibrated cell‐based functional assay to aid classification of MLH1 DNA mismatch repair gene variants
39. Supplement to: Gene-panel sequencing and the prediction of breast-cancer risk.
40. The Human Variome Project
41. Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants
42. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
43. Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial
44. Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
45. BRCA1 Circos: a visualisation resource for functional analysis of missense variants
46. Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
47. Personalized Risk Assessment for Prevention and Early Detection of Breast Cancer: Integration and Implementation (PERSPECTIVE I&I)
48. A Cell Cycle Regulator Potentially Involved in Genesis of Many Tumor Types
49. A calibrated cell-based functional assay to aide classification of MLH1 DNA mismatch repair gene variants
50. First international workshop of the ATM and cancer risk group (4-5 December 2019)
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