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
Pathogenic genetic variants from highly connected cancer susceptibility genes confer the loss of structural stability.
Reza MN et al.
Scientific Reports, 2021
34584144 (PubMed )
Supplement: 41598_2021_98547_MOESM1_ESM.zip › Supplementary_files-5-8-21 › Supplementary_file_4.xlsx › Sheet1
Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.
Huang C et al.
Genome Biology, 2021
33691754 (PubMed )
Supplement: 13059_2021_2305_MOESM7_ESM.xlsx › Table_S6
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 › 1._Used_in_analysis
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