@rpavaneijk I’m confused - you say this paper https://t.co/TqujwC7KOF is in line with your study. But it postulates 45% als penetrance for European heritage c9 carriers, and speculates but does not calculate , a similar amount for FTD, for a cumulative 90%
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RT @BioMedCentral: An article published in @GenomeMedicine presents a novel method for genetic penetration estimation in autosomal dominant…
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An article published in @GenomeMedicine presents a novel method for genetic penetration estimation in autosomal dominant phenotypes using population-scale data. This can facilitate the characterisation of disease risks associated with rare variants. https
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RT @AlfredoIacoange: It's great to see @ThomasSpargo's first paper published in @GenomeMedicine His method to estimate variant penetrance u…