Rare Variants
Whole genome sequencing is presented as the best consumer-scale tool for finding rare variants, although it remains incomplete. Common variants are usually framed as less likely than rare variants to explain extreme unresolved dysfunction…
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Whole genome sequencing is presented as the best consumer-scale tool for finding rare variants, although it remains incomplete. Common variants are usually framed as less likely than rare variants to explain extreme unresolved dysfunction by themselves. A rare variant becomes clinically interesting when it affects a root metabolic process and has a plausible intervention. Rare variants are individually uncommon but collectively common enough that many people may carry meaningful variants.