407 results on '"Tavtigian, Sean"'
Search Results
2. Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
3. Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel
4. Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel
5. ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
6. Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
7. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
8. Comprehensive evaluation and efficient classification of BRCA1 RING domain missense substitutions
9. First international workshop of the ATM and cancer risk group (4-5 December 2019)
10. Identification of Individuals With Hereditary Cancer Risk Through Multiple Data Sources: A Population-Based Method Using the GARDE Platform and The Utah Population Database.
11. Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome
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. Mobile element insertions and associated structural variants in longitudinal breast cancer samples
15. Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
16. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework
17. Whole-Genome Shotgun Assembly and Analysis of the Genome of Fugu rubripes
18. Pathogenic Germline Variants in Cancer Susceptibility Genes in Children and Young Adults With Rhabdomyosarcoma
19. Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
20. Targeted germline sequencing of patients with three or more primary melanomas reveals high rate of pathogenic variants
21. P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
22. P721: Computational tool performance across BRCA1: A case-control informed analysis
23. Colorectal cancer prevention and intentions to use low-dose aspirin: A survey of 1000 U.S. adults aged 40–65
24. Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families
25. 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
26. P644: Can computational tools generate greater than ACMG supporting evidence? A circularity-free analysis using ATM, CHEK2, and breast cancer case-control data
27. P534: Investigating independence of PS3 and PM1 evidence categories using case-control data in BRCA1
28. P364: Exploring the effects of a point mutation in the 5’ UTR of APC found in a family with colon cancer
29. P076: The ClinGen ENIGMA BRCA1/2 expert panel: A dynamic framework for evidence-based recommendations to improve classification criteria for variants in BRCA1/2*
30. P061: ATM and PALB2 variant curation guidelines progress update: ClinGen Hereditary Breast, Ovarian, and Pancreatic Cancer Variant Curation Expert Panel
31. P050: Establishment of a novel functional assay to test ATM variants of uncertain significance
32. Pancreatic cancer as a sentinel for hereditary cancer predisposition
33. Clinical Multigene Panel Testing Identifies Racial and Ethnic Differences in Germline Pathogenic Variants Among Patients With Early-Onset Colorectal Cancer.
34. Supplement to: Gene-panel sequencing and the prediction of breast-cancer risk.
35. The Human Variome Project
36. Uncovering the contribution of moderate-penetrance susceptibility genes to breast cancer by whole-exome sequencing and targeted enrichment sequencing of candidate genes in women of European ancestry
37. Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants
38. No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
39. Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial
40. Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk
41. BRCA1 Circos: a visualisation resource for functional analysis of missense variants
42. Rare, Evolutionarily Unlikely Missense Substitutions in ATM Confer Increased Risk of Breast Cancer
43. Inherited Cancer Susceptibility Gene Sequence Variations Among Patients With Appendix Cancer.
44. A Cell Cycle Regulator Potentially Involved in Genesis of Many Tumor Types
45. A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1
46. Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer
47. Shotgun Approach to Functional Annotation of Genes
48. Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk
49. Growing recognition of the role for rare missense substitutions in breast cancer susceptibility
50. Analysis of BRCA1/BRCA2 genes’ contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women
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