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Chunk #41 — Materials and Methods — Simulation study — A simulated dataset with extended pedigrees

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A general approach for haplotype phasing across the full spectrum of relatedness.
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We wished to investigate accuracy on pedigrees that are collected as part of a larger cohort, hence we simulated pedigrees with the same structures as those observed in the Val Borbera cohort. We only used those pedigrees having “informative” meioses ( siblings or three generations) and generated founder individuals using male X chromosome data. These simulated founders were then “mated” to create descendants (and the descendants were also mated in cases of three generation pedigrees). There were 65 such pedigrees, with 199 founders although only 108 of these founders were assayed. We carried out two sets of simulations: one realistic scenario where we attempt to emulate the type of data collected in practice and one ideal scenario which should be advantageous for Merlin.