Documentation

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Publication Details

Results for Guo2018:

Summary

Title	Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model
Authors	Guo, 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.
Technology	Molecular inversion probes
Variant source	Data 2: Validation results for LGD and MIS30+ varaints. Data 3: Validation results for MIS30- variants. Data 4: Summary of DNMs detected in this study
Cohorts	Autism Clinical and Genetic Resources in China
Design	Simplex/Multiplex
URL	https://dx.doi.org/10.1186/s13229-018-0247-z
Pubmed	30564305
Subject count	1247 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 count	1721
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	69
frameshift insertion	22
nonframeshift deletion	2
nonsynonymous SNV	1381
other	122
splicing	36
stopgain	76
unknown	13

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.