Associated Papers
The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases.
Shaw CA et al.
American Journal of Human Genetics, 2025
40829599 (PubMed )
Supplement: mmc2.xlsx › Annotations
Reinterpretation of Conflicting ClinVar BRCA1 Missense Variants Using VarSome and CanVIG-UK Gene-Specific Guidance.
So MK et al.
Diagnostics (basel, Switzerland), 2024
39767183 (PubMed )
Supplement: diagnostics-14-02821-s001.zip › diagnostics-3307629-supplementary_Table.xlsx › Supplementary_Table_S1
Identifying Novel Germline Mutations and Copy Number Variations in Patients With SCLC.
Ul Haq S et al.
Jto Clinical and Research Reports, 2024
39564094 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.
Nguyen HT et al.
Frontiers in Oncology, 2022
36578946 (PubMed )
Supplement: DataSheet_2.xlsx › Variants_detected_in_FFPE
Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".
Dines JN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31911673 (PubMed )
Supplement: 41436_2019_740_MOESM2_ESM.xlsx › 2._Full_includes_CIP_and_0_star
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
Martelotto LG et al.
Genome Biology, 2014
25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2
Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.
Jalkh N et al.
Hereditary Cancer in Clinical Practice, 2012
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