Genetic variants associated with rare human phenotypes

 
   Lead Investigator:    Matt Huentelman
   Institution      :    TGen
   E-Mail           :    mhuentelman@tgen.org
   Proposal ID      :    524



   Proposal Description:
   We are interested in applying whole genome and whole exome sequencing to identify genetic variants associated with rare human phenotypes. We have chosen to investigate rare phenotypes because they have demonstrated the ability to inform about much more common phenotypes and disease and because they are rare we can apply certain genetic hypotheses to the data. For this particular NACC dataset we are interested in the putative genetic drivers associated with amyloid positive neuroimaging scans in individuals who are negative for dementia. We are working under the hypothesis that the variants associated with this condition may be protective against the effects of amyloid on cognitive function.