Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Human Genetics"
DOI: 10.1038/ejhg.2017.61
Abstract: The classic epileptic encephalopathies, including infantile spasms (IS) and Lennox–Gastaut syndrome (LGS), are severe seizure disorders that usually arise sporadically. De novo variants in genes mainly encoding ion channel and synaptic proteins have been found… read more here.
Keywords: epileptic encephalopathy; variant transmission; transmission; transmission disequilibrium ... See more keywords
Transcriptome-wide transmission disequilibrium analysis identifies novel risk genes for autism spectrum disorder
Sign Up to like & getrecommendations! Published in 2021 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1009309
Abstract: Recent advances in consortium-scale genome-wide association studies (GWAS) have highlighted the involvement of common genetic variants in autism spectrum disorder (ASD), but our understanding of their etiologic roles, especially the interplay with rare variants, is… read more here.
Keywords: transmission disequilibrium; transcriptome wide; autism spectrum; spectrum disorder ... See more keywords