eP121: Integrating de novo and inherited variants in over 42,607 autism cases identifies variants in new moderate risk genes
نویسندگان
چکیده
We have created a large longitudinal research cohort, SPARK (SPARKForAutism.org) to advance on the genetic, behavioral, and clinical features associated with ASD. represents largest ASD cohort in world, over 100,000 individuals enrolled. Despite known heritable nature of autism spectrum disorder (ASD), studies primarily identified risk genes de novo variants (DNVs).
منابع مشابه
Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes, based on independent de novo loss-of-function (LoF) mutations falling in the same gene, and found that de novo LoF mutations occurred at a twofold ...
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Mutations in the postsynaptic scaffolding gene SHANK2 have recently been identified in individuals with autism spectrum disorder (ASD) and intellectual disability. However, the cellular and physiological consequences of these mutations in neurons remain unknown. We have analyzed the functional impact caused by two inherited and one de novo SHANK2 mutations from ASD individuals (L1008_P1009dup, ...
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1 Probabilistic model of de novo mutations and inherited variations in family data 2 2 The impact of mutation rates on the Multiplicity Test 3 3 Bayesian inference of risk genes 3 4 Estimation of the prior parameters by the Hierarchical Bayes method 5 5 TADA for multiple types of mutations 5 6 Method of moment estimation of the number of ASD genes and their relative risks 6 7 Comparison with an...
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BACKGROUND Autism spectrum disorder (ASD) is one of the most highly heritable neuropsychiatric disorders, but underlying molecular mechanisms are still unresolved due to extreme locus heterogeneity. Leveraging meaningful endophenotypes or biomarkers may be an effective strategy to reduce heterogeneity to identify novel ASD genes. Numerous lines of evidence suggest a link between hyperserotonemi...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 2022
ISSN: ['1098-3600', '1530-0366']
DOI: https://doi.org/10.1016/j.gim.2022.01.157