Progress in Genetics of Autism

Dear Colleagues,

Detailed phenotyping coupled with the sequencing of patient cohorts with autism spectrum disorder (ASD) have dramatically accelerated the deciphering of genetic architecture and discovery of risk genes. To date, over 200 high-confident genes have been identified. Despite these advances, we are now facing new challenges. Only a small fraction of the genetic risk has been defined, the penetrance of most mutated genes is unknown, and genotype–phenotype correlations in most cases are unclear. With an increasing sample size and application of whole-genome sequencing approaches, we now have the opportunity to identify ASD-associated rare coding and non-coding variants with high and moderate effect sizes and to decipher individual-level genetic architecture. Those new advances would provide further understanding of the genetic architecture of ASD and accelerate the progress of precision genetic diagnosis and management in clinical practices. This issue will focus on new progress in the following directions: (i) identification of ASD-associated rare non-coding variants; (ii) identification of new genes/variants with a moderate effect size; (iii) better understanding of the prevalence, inheritance, and genotype–phenotype correlations of known and new ASD high-risk genes, (iv) investigation of the genetic architecture (e.g., combination pattern of rare risk variants) at the individual level, and (v) comparison of the mutation pattern and genetic architecture of ASD between different populations.

Prof. Dr. Kun Xia
Prof. Dr. Hui Guo
Prof. Dr. Jinchen Li
Guest Editors

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• autism

• ASD

• genetics

• genome

• non-coding variants

• moderate effect size