2 documents found, page 1 of 1
The role of rare compound heterozygous events in autism spectrum disorder
Lin, Bochao Danae; Colas, Fabrice; Nijman, Isaac J.; Medic, Jelena; Brands, William; Parr, Jeremy R.; van Eijk, Kristel R.; Klauck, Sabine M.The identification of genetic variants underlying autism spectrum disorders (ASDs) may contribute to a better understanding of their underlying biology. To examine the possible role of a specific type of compound heterozygosity in ASD, namely, the occurrence of a deletion together with a functional nucleotide variant on the remaining allele, we sequenced 550 genes in 149 individuals with ASD and their deletion-...
Polygenic transmission disequilibrium confirms that common and rare variation a...
Weiner, Daniel J.; Wigdor, Emilie M.; Ripke, Stephan; Walters, Raymond K.; Kosmicki, Jack A.; Grove, Jakob; Samocha, Kaitlin E.Autism spectrum disorder (ASD) risk is influenced by common polygenic and de novo variation. We aimed to clarify the influence of polygenic risk for ASD and to identify subgroups of ASD cases, including those with strongly acting de novo variants, in which polygenic risk is relevant. Using a novel approach called the polygenic transmission disequilibrium test and data from 6,454 families with a child with ASD, ...