Cited by 48Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Autism genetic database (AGD): a comprehensive database including autism susceptibility gene-CNVs integrated with known noncoding RNAs and fragile sites

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Matuszek, Gregory, Talebizadeh, Zohreh·2009·BMC Medical Genetics

Abstract

BACKGROUND: Autism is a highly heritable complex neurodevelopmental disorder, therefore identifying its genetic basis has been challenging. To date, numerous susceptibility genes and chromosomal abnormalities have been reported in association with autism, but most discoveries either fail to be replicated or account for a small effect. Thus, in most cases the underlying causative genetic mechanisms are not fully understood. In the present work, the Autism Genetic Database (AGD) was developed as a literature-driven, web-based, and easy to access database designed with the aim of creating a comprehensive repository for all the currently reported genes and genomic copy number variations (CNVs) associated with autism in order to further facilitate the assessment of these autism susceptibility genetic factors. DESCRIPTION: AGD is a relational database that organizes data resulting from exhaustive literature searches for reported susceptibility genes and CNVs associated with autism. Furthermore, genomic information about human fragile sites and noncoding RNAs was also downloaded and parsed from miRBase, snoRNA-LBME-db, piRNABank, and the MIT/ICBP siRNA database. A web client genome browser enables viewing of the features while a web client query tool provides access to more specific information for the features. When applicable, links to external databases including GenBank, PubMed, miRBase, snoRNA-LBME-db, piRNABank, and the MIT siRNA database are provided. CONCLUSION: AGD comprises a comprehensive list of susceptibility genes and copy number variations reported to-date in association with autism, as well as all known human noncoding RNA genes and fragile sites. Such a unique and inclusive autism genetic database will facilitate the evaluation of autism susceptibility factors in relation to known human noncoding RNAs and fragile sites, impacting on human diseases. As a result, this new autism database offers a valuable tool for the research community to evaluate genetic findings for this complex multifactorial disorder in an integrated format. AGD provides a genome browser and a web based query client for conveniently selecting features of interest. Access to AGD is freely available at http://wren.bcf.ku.edu/.

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  • Previous curated lists of genes implicated in ASDs and loosely defined evidence scores for entries are incomplete, non-systematic, and static.

    “Previous work has crafted curated lists of genes implicated in autism spectrum disorders (ASDs) [1-5], and in some cases developed loosely defined “evidence scores” for entries [6-8]. Such efforts are incomplete, non-systematic and static.”

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Authors
Matuszek, G., & Talebizadeh, Z.
Affiliations
  • University of Kansas (US)
  • Children's Mercy Hospital (US)
Corresponding author
Talebizadeh, Zohreh
Venue
BMC Medical Genetics
Published
2009-09-24
Volume
10
Issue
1
Pages
102-102
ISSN
1471-2350 (ISSN-L)
OpenAlex
W2161791121
Cited by
48
References
53
Citations by year
2025: 2 · 2023: 1 · 2022: 1 · 2021: 1 · 2020: 2 · 2019: 2 · 2018: 2 · 2016: 1 · 2015: 9 · 2014: 6 · 2013: 7 · 2012: 2
FWCI
2.27
Type
journal article
Language
en
Open access
Locations
  • BMC Medical Genetics (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • KU ScholarWorks (University of Kansas) (submittedVersion, cc-by)
Funders
  • Autism Speaks (AS2578)
  • National Center for Research Resources (P20 RR0146475)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
Keywords
autism spectrum disorder, autism susceptibility genes, copy number variation, non-coding RNA, fragile sites, genetic databases, genome browser, microRNA, small nucleolar RNA, piRNA, siRNA, neurodevelopmental disorders
MeSH terms
Autistic Disorder, Humans, Gene Dosage, Genetic Predisposition to Disease, RNA, Untranslated, Databases, Genetic, Chromosome Fragile Sites

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