Genetic & Genomic MedicinemedRxivPreprint
KinformR: novel pedigree and candidate variant scoring methods for family-based genetic studies
Cameron M. Nugent, Margaret L. MacMillan, Tom Barber, Bari J. Ballew
KinformR provides scoring metrics to evaluate pedigrees and prioritize variants in family-based genetic studies, improving efficiency and accuracy in identifying disease-associated rare variants.
DOI 10.1101/2025.10.06.25337426