Statistical methodology and analysis of the Simons Simplex Collection and related data

  • Awarded: 2013
  • Award Type: Simons Simplex Collection
  • Award #: 296012, 448357

Since 2008, Abba Krieger, Andreas Buja and their colleagues in the statistics department at the Wharton School of the University of Pennsylvania have carried out various statistical analyses on genotype (genetically coded information) and phenotype (outward manifestation of that information) data from individuals with autism.

Over this period they have collaborated with other SFARI autism researchers at the University of Michigan to analyze phenotype data. With collaborators at Cold Spring Harbor Laboratory, they have analyzed genotype data from the Simons Simplex Collection as well as behavioral, brain imaging, gene expression and genotype data from a genetic mouse model of autism. Krieger’s team has also developed data analysis and visualization software particularly suited for the rich data from these sources.

Most recently they have collaborated on data related to maternal brain-specific antibodies, and on the selection and processing of essential phenotype variables for future phenotype-genotype association studies. Examples of such variables include measures of intelligence, daily living skills and social functioning.

Future work may include analyzing data from the Simons Variation in Individuals Project, which recruits individuals on the basis of a common genetic abnormality, as opposed to an autism diagnosis.

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