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Genomics, convergent neuroscience and progress in understanding autism spectrum disorder
More than a hundred genes have been identified that, when disrupted, impart large risk for
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
autism spectrum disorder (ASD). Current knowledge about the encoded proteins—although …
Benefits and limitations of genome-wide association studies
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
genomes of many individuals to identify genotype–phenotype associations. GWAS have …
Pathway enrichment analysis and visualization of omics data using g: Profiler, GSEA, Cytoscape and EnrichmentMap
Pathway enrichment analysis helps researchers gain mechanistic insight into gene lists
generated from genome-scale (omics) experiments. This method identifies biological …
generated from genome-scale (omics) experiments. This method identifies biological …
Identification of common genetic risk variants for autism spectrum disorder
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …
[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
(n= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
[HTML][HTML] Genetic causes and modifiers of autism spectrum disorder
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …
[HTML][HTML] A cross-disorder dosage sensitivity map of the human genome
Rare copy-number variants (rCNVs) include deletions and duplications that occur
infrequently in the global human population and can confer substantial risk for disease. In …
infrequently in the global human population and can confer substantial risk for disease. In …
An overview of the main genetic, epigenetic and environmental factors involved in autism spectrum disorder focusing on synaptic activity
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social
interaction and communication, with restricted interests, activity and behaviors. ASD is highly …
interaction and communication, with restricted interests, activity and behaviors. ASD is highly …
The genetics of bipolar disorder
Bipolar disorder (BD) is one of the most heritable mental illnesses, but the elucidation of its
genetic basis has proven to be a very challenging endeavor. Genome-Wide Association …
genetic basis has proven to be a very challenging endeavor. Genome-Wide Association …
Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects
Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …