KinformR: Relationship-Informed Pedigree and Variant Scoring

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Authors: Cameron M. Nugent
Cited by: 0
References: 1

Abstract

Comparative evaluation of families and candidate variants in rare-variant association studies. The package can be used for two methodologically overlapping but distinct purposes. First, the prior to any genetic or genomic evaluation, evaluation of relative detection power of pedigrees, can direct recruitment efforts by showing which individuals not yet sampled would be the most meaningful additions to a study. Second, after sequencing and analysis, variants based on association with disease status and familial relationships of individuals, aids in variant prioritization. Methodology is described in Nugent (2025) .

Fields of Study & Subjects

Genetic Associations and Epidemiology Genomics and Rare Diseases Genetic Mapping and Diversity in Plants and Animals

Publication details

Publication date
17 February 2026
Language
EN
Document type
Dataset