When a kinship discrepancy changes neurogenetic segregation
by Bea Lin
SNP panels may reveal that the recorded pedigree does not match the genetic relationship used in a kinship calculation. In a neurogenetic evidence review, that discrepancy could also change which relatives count as informative for segregation and whether phenotype timing supports the proposed variant mechanism. Should the segregation analysis be repeated under each plausible pedigree, and should age at onset or current age be revisited before changing the phenotype match? The key distinction is whether the new information changes only the relationship model or also the variant interpretation.
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