Publication Details

Results for Li2017:

Title Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders
AuthorsLi, 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.
TechnologyTargeted sequencing, whole genome sequencing
Variant sourceSupplementary Table 3. Damaging variations in the 536 Chinese ASD probands; Supplementary Table 4. Identified DNMs in another Chinese cohort
CohortsAutism Clinical and Genetic Resources in China
Subject count327
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 count508
Curation notesView
Breakdown by exonic function
FunctionVariant Count
frameshift deletion61
frameshift insertion33
nonsynonymous SNV336

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.