Login / Signup

Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.

Louisa KalsnerJennifer Twachtman-BassettKristin TokarskiChristine StanleyThyde Dumont-MathieuJustin CotneyStormy Chamberlain
Published in: Molecular genetics & genomic medicine (2017)
The yield of genetic testing including microarray, fragile X (boys) and targeted gene panel was 12%. Gene panel did not increase diagnostic yield; however, we found an increase in rare variants in KIRREL3. Our findings reinforce the need for racial/ethnic diversity in large-scale genomic databases used to identify variants that contribute to disease risk.
Keyphrases
  • copy number
  • genome wide
  • genome wide identification
  • cancer therapy
  • dna methylation
  • gene expression
  • drug delivery
  • big data