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
Reclassification of VUS in BRCA1 and BRCA2 using the new BRCA1/BRCA2 ENIGMA track set demonstrates the superiority of ClinGen ENIGMA Expert Panel specifications over the standard ACMG/AMP classification system.
Benet-Pagès A et al.
Genetics in Medicine Open, 2025
40027238 (PubMed )
Supplement: mmc1.xlsx › Tabelle1
Rapid, ultra low coverage copy number profiling of cell-free DNA as a precision oncology screening strategy.
Hovelson DH et al.
Oncotarget, 2017
29163793 (PubMed )
Supplement: oncotarget-08-89848-s005.xlsx › TableS4
Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer.
Landwehr R et al.
Breast Cancer Research and Treatment, 2011
Select a paper to view details