SFARI Gene: an evolving database for the autism research community

Banerjee-Basu, Sharmila; Packer, Alan

doi:10.1242/dmm.005439

Cited by 268 publications

(245 citation statements)

References 2 publications

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“…Schizophrenia was included since it is used more frequently in the databases than the less specific term psychosis. We searched for gene–phenotype associations in the following databases: OMIM,24 University of Copenhagen DISEASES database,20 UniprotKB,25 Genecards,26 Autism Genetic Database,27 Genetic Association database,28 HuGEnet,29 Schizophrenia Gene Resource,30 AutDB,31 AutismKB,32 Genatlas,33 Huge GWAS,29 ADHDgene34 and Sfari 35. To minimise the number of false gene-name mappings, we kept only mappings where the preferred name corresponded to the name used in the database.…”

Section: Methodsmentioning

confidence: 99%

Neurodevelopmental disorders associated with dosage imbalance ofZBTB20correlate with the morbidity spectrum of ZBTB20 candidate target genes

et al. 2014

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Section: Methodsmentioning

confidence: 99%

Neurodevelopmental disorders associated with dosage imbalance ofZBTB20correlate with the morbidity spectrum of ZBTB20 candidate target genes

et al. 2014

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“…For example, rare variants have been identified in only 6/461 ASD cases for CACNA1H 5, 6 and CNTN4 deletions have been identified in 7/~2000 cases 7–10 . These genes represent two of the five leading candidate genes in ASD to date 11 . Several promising recent studies have revealed an association between de novo mutations and CNVs with ASD; however de novo events do not directly explain the high heritability OF ASD 12 .…”

Section: Introductionmentioning

confidence: 99%

Common DNA methylation alterations in multiple brain regions in autism

Hansen²,

et al. 2013

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Autism spectrum disorders (ASD) are increasingly common neurodevelopmental disorders defined clinically by a triad of features including impairment in social interaction, impairment in communication in social situations, and restricted and repetitive patterns of behavior and interests, with considerable phenotypic heterogeneity among individuals. Although heritability estimates for ASD are high, conventional genetic-based efforts to identify genes involved in ASD have yielded only few reproducible candidate genes that account for only a small proportion of ASDs. There is mounting evidence to suggest environmental and epigenetic factors play a stronger role in the etiology of ASD than previously thought. To begin to understand the contribution of epigenetics to ASD, we have examined DNA methylation (DNAm) in a pilot study of post-mortem brain tissue from 19 autism cases and 21 unrelated controls, among three brain regions including dorsolateral prefrontal cortex, temporal cortex, and cerebellum. We measured over 485,000 CpG loci across a diverse set of functionally relevant genomic regions using the Infinium HumanMethylation450 BeadChip and identified 4 genome-wide significant differentially methylated regions (DMRs) using a novel bumphunting approach and a permutation-based multiple testing correction method. We replicated 3/4 DMRs identified in our genome-wide screen in a different set of samples and across different brain regions. The DMRs identified in this study represent suggestive evidence for commonly altered methylation sites in ASD and provide several promising new candidate genes.

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“…These genes can explain ∼10% of individuals with ASDs; (ii) rare chromosome abnormalities (Marshall et al, 2008) that were observed in ∼5% ASDs cases; (iii) rare CNVs that contribute to ∼5% cases (Malhotra & Sebat, 2012); (iv) rare penetrant genes that account for ∼5% cases (Banerjee-Basu & Packer, 2010;State, 2010;Xu et al, 2012). As we still miss the molecular basis for the rest ∼70% cases, the studies focusing on common variants have not identified any significant sites associated with ASDs (Anney et al, 2012).…”

Section: A Complex Genetic Architecture Of Asdsmentioning

confidence: 97%

High-throughput sequencing of autism spectrum disorders comes of age

et al. 2013

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Autism spectrum disorders (ASDs) are lifelong neurodevelopmental disabilities that affect 1 in 88 children in the USA. Despite the high heritability, the genetic basis for a majority of the ASDs remains elusive. The considerable clinical and genetic heterogeneity pose a significant challenge technically. State-of-the-art high-throughput sequencing (HTS), which makes the analyses of any specific single/multiple genes or whole exomes feasible, has shown a promising perspective in disease gene discovery. To date, numerous genetic studies using HTS have been reported and many rare inherited or de novo mutations have been identified. This review will focus on the progress and prospective of genome studies of ASDs using HTS.

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SFARI Gene: an evolving database for the autism research community

Cited by 268 publications

References 2 publications

Neurodevelopmental disorders associated with dosage imbalance ofZBTB20correlate with the morbidity spectrum of ZBTB20 candidate target genes

Neurodevelopmental disorders associated with dosage imbalance ofZBTB20correlate with the morbidity spectrum of ZBTB20 candidate target genes

Common DNA methylation alterations in multiple brain regions in autism

High-throughput sequencing of autism spectrum disorders comes of age

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