Segpy: a streamlined, user-friendly pipeline for variant segregation analysis

As input, users must provide a single VCF file describing the genetic variants of all study subjects and a pedigree file describing the familial relationships among those individuals (if applicable) and their disease status. As output, Segpy computes variant carrier counts for affected and unaffected individuals, both within and outside of families, by categorizing wild-type individuals, heterozygous carriers, and homozygous carriers at specific loci. These counts are organized into a comprehensive data frame, with each row representing a single variant and labeled with the Sample IDs of the corresponding carriers to facilitate donwstream analysis.