stitchy
Joined 15 years ago
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Comment · 11 years ago
Comment · 11 years ago
"Our model
makes two very strong predictions. The first is that the rate of de novo mutations in affected
children from multiplex families will be barely above that of an unaffected control population.
On this point, the literature presently has conflicting reports [3,6,22]. The samples needed to
resolve this question properly, namely blood derived DNAs from multiplex families, has either
not yet been collected or sequenced. The second prediction made by our model is that there will
be a high rate of transmission of strong alleles in multiplex families, typically from the mother,
and in the same genes targeted by de novo mutation in simplex autism. While there is some
indirect support for a female carrier effect based on half-sibs [23], a genetic study of
transmission based on the targets of de novo mutation is only now possible [21]."
This seems like a succinct summary for the paper. Or at least, it's the part that stuck out to me.
https://github.com/timothymdavis/taciturn