The Temple Grandin Genome: Comprehensive Analysis in a Scientist with High-Functioning Autism.

ABSTRACT: Autism spectrum disorder (ASD) is a heterogeneous condition with a complex genetic etiology. The objective of this study is to identify the complex genetic factors that underlie the ASD phenotype and other clinical features of Professor Temple Grandin, an animal scientist and woman with high-functioning ASD. Identifying the underlying genetic cause for ASD can impact medical management, personalize services and treatment, and uncover other medical risks that are associated with the genetic diagnosis. Prof. Grandin underwent chromosomal microarray analysis, whole exome sequencing, and whole genome sequencing, as well as a comprehensive clinical and family history intake. The raw data were analyzed in order to identify possible genotype-phenotype correlations. Genetic testing identified vari

SUBMITTER: Vanzo RJ 

PROVIDER: S-EPMC7824360 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature