SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)

被引：528

作者：

Abrahams, Brett S. ^{[1
,2
]}

Arking, Dan E. ^{[3
]}

Campbell, Daniel B. ^{[4
,5
]}

Mefford, Heather C. ^{[6
]}

Morrow, Eric M. ^{[7
,8
]}

Weiss, Lauren A. ^{[9
]}

Menashe, Idan ^{[10
,11
]}

Wadkins, Tim ^{[10
]}

Banerjee-Basu, Sharmila ^{[10
]}

Packer, Alan ^{[12
]}

机构：

[1] Albert Einstein Coll Med, Dept Genet, Bronx, NY 10467 USA

[2] Albert Einstein Coll Med, Dept Neurosci, Bronx, NY 10467 USA

[3] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA

[4] Univ So Calif, Keck Sch Med, Zilkha Neurogenet Inst, Los Angeles, CA 90033 USA

[5] Univ So Calif, Keck Sch Med, Dept Psychiat & Behav Sci, Los Angeles, CA 90033 USA

[6] Univ Washington, Dept Pediat, Div Med Genet, Seattle, WA 98195 USA

[7] Brown Univ, Dept Mol Biol Cell Biol & Biochem, Providence, RI 02912 USA

[8] Brown Univ, Dept Psychiat & Human Behav, Providence, RI 02912 USA

[9] UCSF, Ctr Neurobiol & Psychiat, Inst Human Genet, Dept Psychiat, San Francisco, CA USA

[10] MindSpec Inc, Mclean, VA USA

[11] Ben Gurion Univ Negev, Fac Hlth Sci, Dept Publ Hlth, IL-84105 Beer Sheva, Israel

[12] Simons Fdn Autism Res Initiat, New York, NY USA

来源：

MOLECULAR AUTISM | 2013年 / 4卷

关键词：

Autism Spectrum Disorder; Autism Spectrum Disorder; Modest Support; Video Tutorial; Community Annotation;

D O I：

10.1186/2040-2392-4-36

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

New technologies enabling genome-wide interrogation have led to a large and rapidly growing number of autism spectrum disorder (ASD) candidate genes. Although encouraging, the volume and complexity of these data make it challenging for scientists, particularly non-geneticists, to comprehensively evaluate available evidence for individual genes. Described here is the Gene Scoring module within SFARI Gene 2.0 (https://gene.sfari.org/autdb/GS_Home.do), a platform developed to enable systematic community driven assessment of genetic evidence for individual genes with regard to ASD.

引用

页数：3

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