Benefits and limitations of genome-wide association studies

V Tam, N Patel, M Turcotte, Y Bossé, G Paré… - Nature Reviews …, 2019 - nature.com
Genome-wide association studies (GWAS) involve testing genetic variants across the
genomes of many individuals to identify genotype–phenotype associations. GWAS have …

Genetic causes and modifiers of autism spectrum disorder

L Rylaarsdam, A Guemez-Gamboa - Frontiers in cellular …, 2019 - frontiersin.org
Autism Spectrum Disorder (ASD) is one of the most prevalent neurodevelopmental
disorders, affecting an estimated 1 in 59 children. ASD is highly genetically heterogeneous …

Pathway enrichment analysis and visualization of omics data using g: Profiler, GSEA, Cytoscape and EnrichmentMap

J Reimand, R Isserlin, V Voisin, M Kucera… - Nature protocols, 2019 - nature.com
Pathway enrichment analysis helps researchers gain mechanistic insight into gene lists
generated from genome-scale (omics) experiments. This method identifies biological …

Identification of common genetic risk variants for autism spectrum disorder

J Grove, S Ripke, TD Als, M Mattheisen, RK Walters… - Nature …, 2019 - nature.com
Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of
neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic …

[PDF][PDF] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

FK Satterstrom, JA Kosmicki, J Wang, MS Breen… - Cell, 2020 - cell.com
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 …

Genomics, convergent neuroscience and progress in understanding autism spectrum disorder

HR Willsey, AJ Willsey, B Wang… - Nature Reviews …, 2022 - nature.com
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 …

The genetics of bipolar disorder

FJA Gordovez, FJ McMahon - Molecular psychiatry, 2020 - nature.com
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 …

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

CR Marshall, DP Howrigan, D Merico… - Nature …, 2017 - nature.com
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 …

Advancing the understanding of autism disease mechanisms through genetics

L de la Torre-Ubieta, H Won, JL Stein… - Nature medicine, 2016 - nature.com
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …

[PDF][PDF] DNA methylation in newborns and maternal smoking in pregnancy: genome-wide consortium meta-analysis

BR Joubert, JF Felix, P Yousefi, KM Bakulski… - The American Journal of …, 2016 - cell.com
Epigenetic modifications, including DNA methylation, represent a potential mechanism for
environmental impacts on human disease. Maternal smoking in pregnancy remains an …