Publication Details

Results for Guo2018:

Title Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
AuthorsGuo, H., Wang, T., Wu, H., Long, M., Coe, B.P., Li, H., Xun, G., Ou, J., Chen, B., Duan, G., Bai, T., Zhao, N., Shen, Y., Li, Yun, Wang, Y., Zhang, Y., Baker, C., Liu, Y., Pang, N., Huang, L., Han, L., Jia, X., Liu, C., Ni, H., Yang, X., Xia, L., Chen, J., Shen, L., Li, Ying, Zhao, R., Zhao, W., Peng, J., Pan, Q., Long, Z., Su, W., Tan, J., Du, X., Ke, X., Yao, M., Hu, Z., Zou, X., Zhao, J., Bernier, R.A., Eichler, E.E., Xia, K.
TechnologyMolecular inversion probes
Variant sourceData 2: Validation results for LGD and MIS30+ varaints. Data 3: Validation results for MIS30- variants. Data 4: Summary of DNMs detected in this study
CohortsAutism Clinical and Genetic Resources in China
Subject count1247
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count1721
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion69
frameshift insertion22
nonframeshift deletion2
nonsynonymous SNV1381

What am I looking at?

Summary: Information from the literature piece (e.g. Author, Publisher, DOI) and the study experimental design (e.g. sample size, source of probands, sequencing technology.) For a full list of sources of variants, be sure to check out the publications page. Documentation and description of our work can be found on the help page.

Breakdown by exonic function: We annotated the variants with an effect prediction using ANNOVAR. The functions are categories of variants, such as frameshift variants (i.e. frameshift_elongation (SO:0001909)), loss/gain of stop codon, SNVs and non-frameshift variants. See the full list of possible annotations for exonic variants in the documentation.