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Kinship and Social Organization·2025
Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data
Gaviria-Sabogal CC, Bernal IT, Sánchez-Gómez Y, Usaquén W, Casas-Vargas A, Contreras Bravo N, Morel A, Fonseca-Mendoza DJ, Restrepo CM, Cabrera R.
Human molecular genetics · doi:10.1093/hmg/ddaf132 · PMC12498279