Display options
Cite
Yang C, Li J, Wu Q, et al. AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder. Database (Oxford). 2018;2018doi: 10.1093/database/bay106.
Yang, C., Li, J., Wu, Q., Yang, X., Huang, A. Y., Zhang, J., Ye, A. Y., Dou, Y., Yan, L., Zhou, W. Z., Kong, L., Wang, M., Ai, C., Yang, D., & Wei, L. (2018). AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder. Database : the journal of biological databases and curation, 2018. https://doi.org/10.1093/database/bay106
Yang, Changhong, et al. "AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder." Database : the journal of biological databases and curation vol. 2018 (2018). doi: https://doi.org/10.1093/database/bay106
Yang C, Li J, Wu Q, Yang X, Huang AY, Zhang J, Ye AY, Dou Y, Yan L, Zhou WZ, Kong L, Wang M, Ai C, Yang D, Wei L. AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder. Database (Oxford). 2018 Jan 01;2018. doi: 10.1093/database/bay106. PMID: 30339214; PMCID: PMC6193446.
Copy Download .nbib Format: NLM
Share it on

Database (Oxford). 2018 Jan 01;2018. doi: 10.1093/database/bay106.

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

Database : the journal of biological databases and curation

Changhong Yang, Jiarui Li, Qixi Wu, Xiaoxu Yang, August Yue Huang, Jie Zhang, Adam Yongxin Ye, Yanmei Dou, Linlin Yan, Wei-Zhen Zhou, Lei Kong, Meng Wang, Chen Ai, Dechang Yang, Liping Wei

Affiliations

  1. College of Life Sciences, Beijing Normal University, Beijing, China.
  2. National Institute of Biological Sciences, Beijing, China.
  3. Institute of Infectious Diseases, Beijing Key Laboratory of Emerging Infectious Diseases, Beijing Ditan Hospital Capital Medical University, Beijing, China.
  4. Peking-Tsinghua Center for Life Sciences, Beijing, China.
  5. School of Life Sciences, Peking University, Beijing, China.
  6. Center for Bioinformatics, State Key Laboratory of Protein and Plant Gene Research, School of Life Sciences, Peking University, Beijing, China.
  7. Academy for Advanced Interdisciplinary Studies, Peking University, Beijing, China.
  8. State Key Laboratory of Cardiovascular Disease, Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases, Diagnostic Laboratory Service, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

PMID: 30339214 PMCID: PMC6193446 DOI: 10.1093/database/bay106

Abstract

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.

References

  1. J Autism Dev Disord. 2006 Jul;36(5):705-9 - PubMed
  2. Nat Genet. 2011 Jun;43(6):585-9 - PubMed
  3. Sci Rep. 2016 Aug 16;6:31321 - PubMed
  4. Neuron. 2015 Sep 23;87(6):1215-1233 - PubMed
  5. Nat Rev Genet. 2014 Feb;15(2):133-41 - PubMed
  6. Eur J Hum Genet. 2006 Jun;14(6):714-20 - PubMed
  7. Am J Hum Genet. 2017 Sep 7;101(3):369-390 - PubMed
  8. Nature. 2012 Apr 04;485(7397):237-41 - PubMed
  9. Nucleic Acids Res. 2012 Jan;40(Database issue):D1016-22 - PubMed
  10. Hum Mol Genet. 2015 Apr 15;24(8):2125-37 - PubMed
  11. Mol Autism. 2012 Oct 15;3(1):9 - PubMed
  12. Bioinformatics. 2009 Oct 1;25(19):2595-6602 - PubMed
  13. Arch Gen Psychiatry. 2011 Nov;68(11):1095-102 - PubMed
  14. Nucleic Acids Res. 2017 Jan 4;45(D1):D804-D811 - PubMed
  15. Nucleic Acids Res. 2017 Jan 4;45(D1):D865-D876 - PubMed
  16. Annu Rev Genomics Hum Genet. 2013;14:191-213 - PubMed
  17. Mol Psychiatry. 2007 Jan;12(1):2-22 - PubMed
  18. Pediatrics. 2004 May;113(5):e472-86 - PubMed
  19. Nat Methods. 2014 Apr;11(4):361-2 - PubMed
  20. Nat Neurosci. 2017 Sep;20(9):1217-1224 - PubMed
  21. Hum Mutat. 2017 Aug;38(8):1002-1013 - PubMed
  22. Neuron. 2010 Oct 21;68(2):254-69 - PubMed
  23. Am J Hum Genet. 2008 Feb;82(2):477-88 - PubMed
  24. PLoS Genet. 2013;9(8):e1003671 - PubMed
  25. Neuron. 2018 Feb 7;97(3):488-493 - PubMed
  26. Nature. 2014 Nov 13;515(7526):216-21 - PubMed
  27. MMWR Surveill Summ. 2016 Apr 01;65(3):1-23 - PubMed
  28. Nucleic Acids Res. 2011 Jul;39(Web Server issue):W316-22 - PubMed
  29. Psychiatr Genet. 2012 Jun;22(3):137-40 - PubMed
  30. Nat Rev Genet. 2008 May;9(5):341-55 - PubMed
  31. Natl Health Stat Report. 2013 Mar 20;(65):1-11, 1 p following 11 - PubMed
  32. Nucleic Acids Res. 2009 Jan;37(Database issue):D832-6 - PubMed
  33. J Med Genet. 2007 Aug;44(8):521-5 - PubMed
  34. Cell Rep. 2014 Oct 9;9(1):16-23 - PubMed
  35. Curr Opin Neurobiol. 2015 Feb;30:92-9 - PubMed
  36. Nat Genet. 2014 Aug;46(8):881-5 - PubMed
  37. Nat Commun. 2016 Nov 08;7:13316 - PubMed
  38. Cell. 2012 Dec 21;151(7):1431-42 - PubMed
  39. BMC Med Genet. 2009 Sep 24;10:102 - PubMed
  40. Genome Res. 2001 May;11(5):863-74 - PubMed
  41. Neuron. 2012 Apr 26;74(2):285-99 - PubMed
  42. J Neuropathol Exp Neurol. 2008 Sep;67(9):829-37 - PubMed
  43. PLoS Genet. 2016 Sep 15;12(9):e1006245 - PubMed
  44. Nature. 2012 Apr 04;485(7397):246-50 - PubMed
  45. Eur J Hum Genet. 2008 Oct;16(10):1187-92 - PubMed
  46. Am J Hum Genet. 2013 Aug 8;93(2):249-63 - PubMed
  47. Am J Med Genet A. 2003 Aug 1;120A(4):533-6 - PubMed
  48. Nature. 2012 Apr 04;485(7397):242-5 - PubMed
  49. Nucleic Acids Res. 2010 Sep;38(16):e164 - PubMed

MeSH terms

Publication Types