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A search for variants found in a child but absent from both parents will enrich for two types of errors: false positives found only in the child, and false-negatives that were simply missed in one or both parents.
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Micah Ian Wright (born February 7, 1974 in Lubbock, Texas) is an American author who has worked in film, television, animation, video games and comic books.
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Intriguingly, the causal mutation was only identified when exome sequencing was performed on the disease overgrowth tissue; it was absent from peripheral blood.
This phenomenon of somatic mosaicism has since been observed in other sporadic disorders.
They are also beginning to unravel the role of true mutations tend to be more deleterious than inherited variation because they haven’t undergone the same level of evolutionary selection.
This fact, combined with the observation that they occur with some appreciable frequency, makes The last example, Proteus syndrome, does not run in families but has been reported in discordant monozygotic twins.
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