AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder | Zendy

Changhong Yang | Zendy; Jiarui Li | Zendy; Qixi Wu | Zendy; Xiaoxu Yang | Zendy; August Yue Huang | Zendy; Yuehua Zhang | Zendy; Adam Yongxin Ye | Zendy; Yanmei Dou | Zendy; Linlin Yan | Zendy; WeiZhen Zhou | Zendy; Lei Kong | Zendy; Meng Wang | Zendy; Ai Chen | Zendy; De-Chang Yang | Zendy; Liping Wei | Zendy

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AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder

Author(s) -

Changhong Yang,

Jiarui Li,

Qixi Wu,

Xiaoxu Yang,

August Yue Huang,

Yuehua Zhang,

Adam Yongxin Ye,

Yanmei Dou,

Linlin Yan,

WeiZhen Zhou,

Lei Kong,

Meng Wang,

Ai Chen,

De-Chang Yang,

Liping Wei

Publication year - 2018

Publication title -

database

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.406

H-Index - 62

ISSN - 1758-0463

DOI - 10.1093/database/bay106

Subject(s) - indel , computer science , autism spectrum disorder , ranking (information retrieval) , autism , resource (disambiguation) , linkage (software) , computational biology , gene , genetics , biology , information retrieval , single nucleotide polymorphism , psychology , genotype , computer network , developmental psychology

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with strong genetic contributions. To provide a comprehensive resource for the genetic evidence of ASD, we have updated the Autism KnowledgeBase (AutismKB) to version 2.0. AutismKB 2.0 integrates multiscale genetic data on 1379 genes, 5420 copy number variations and structural variations, 11 669 single-nucleotide variations or small insertions/deletions (SNVs/indels) and 172 linkage regions. In particular, AutismKB 2.0 highlights 5669 de novo SNVs/indels due to their significant contribution to ASD genetics and includes 789 mosaic variants due to their recently discovered contributions to ASD pathogenesis. The genes and variants are annotated extensively with genetic evidence and clinical evidence. To help users fully understand the functional consequences of SNVs and small indels, we provided comprehensive predictions of pathogenicity with iFish, SIFT, Polyphen etc. To improve user experiences, the new version incorporates multiple query methods, including simple query, advanced query and batch query. It also functionally integrates two analytical tools to help users perform downstream analyses, including a gene ranking tool and an enrichment analysis tool, KOBAS. AutismKB 2.0 is freely available and can be a valuable resource for researchers.

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