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Our new study is now out in @nature! We identified repeat expansions as a substantial genetic contributor to #autism, in collaboration with 38 researchers across @SickKidsNews, @UofT, @illumina, @verilylifesci, @autismspeaks & more ⤵️ (1/9)
Link: nature.com/articles/s4158…
Link: nature.com/articles/s4158…
Thanks to advances in #genome sequencing, there have been improvements in clinical diagnosis & gene discovery for a variety of human disorders. Despite this, the number of genetic factors identified so far contribute less risk than expected - aka "missing heritability" (2/9)
This is also true for autism spectrum disorder (ASD). Despite >100 genes implicated in ASD, the genetic factors identified so far can only explain ~20% of cases 🤔 We thought that some answers to these genetically unsolved cases may lie in repetitive regions of the genome. (3/9)
