Documentation

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Publication Details

Results for Li2017:

Summary

Title	Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders
Authors	Li, J., Wang, L., Guo, H., Shi, L., Zhang, K., Tang, M., Hu, S., Dong, S., Liu, Y., Wang, T., Yu, P., He, X., Hu, Z., Zhao, J., Liu, C., Sun, Z.S., Xia, K.
Technology	Targeted sequencing, whole genome sequencing
Variant source	Supplementary Table 3. Damaging variations in the 536 Chinese ASD probands; Supplementary Table 4. Identified DNMs in another Chinese cohort
Cohorts	Autism Clinical and Genetic Resources in China
Design	Simplex
URL	https://dx.doi.org/10.1038/mp.2017.140
Pubmed	28831199
Subject count	327 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	508
Curation notes	View

Breakdown by exonic function

Function	Variant Count
frameshift deletion	61
frameshift insertion	33
nonsynonymous SNV	336
splicing	22
stopgain	57

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.