Associated Papers
Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.
Liu J et al.
Nature Genetics, 2025
40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM4_ESM.xlsx › ST6
Phenotypic evaluation of deep learning models for classifying germline variant pathogenicity.
Chow RD et al.
Npj Precision Oncology, 2024
39427061 (PubMed )
Supplement: 41698_2024_710_MOESM2_ESM.xlsx › S3
Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.
Mian A et al.
Bjui Compass, 2023
36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1
Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.
Southey MC et al.
Npj Breast Cancer, 2021
34887416 (PubMed )
Supplement: 41523_2021_360_MOESM1_ESM.pdf
MAPK and JAK-STAT pathways dysregulation in plasmablastic lymphoma.
Ramis-Zaldivar JE et al.
Haematologica, 2021
33951889 (PubMed )
Supplement: 2020_271957_RAMIS-ZALDIVAR_SUPPL_TableS5.xlsx › 194_Mutations
The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly.
Pinese M et al.
Nature Communications, 2020
31974348 (PubMed )
Supplement: 41467_2019_14079_MOESM4_ESM.xlsx › Somatic
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Whitworth J et al.
American Journal of Human Genetics, 2018
Pancreatic cancer as a sentinel for hereditary cancer predisposition.
Young EL et al.
Bmc Cancer, 2018
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