Potential clinical applications of advanced genomic analysis in cerebral palsy.

Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging research suggests that genetic variations are also important causes of CP. While microarray and whole-exome sequencing based studies have been the primary methods for establishing new CP-gene relationships and providing a genetic etiology for individual patients, the cause of their condition remains unknown for many patients with CP. Recent advancements in genomic technologies offer additional opportunities to uncover variations in human genomes, transcriptomes, and epigenomes that have previously escaped detection.

Accurate diagnosis of atopic dermatitis by combining transcriptome and microbiota data with supervised machine learning.

Atopic dermatitis (AD) is a common skin disease in childhood whose diagnosis requires expertise in dermatology. Recent studies have indicated that host genes-microbial interactions in the gut contribute to human diseases including AD. We sought to develop an accurate and automated pipeline for AD diagnosis based on transcriptome and microbiota data.

Rare variants regulate expression of nearby individual genes in multiple tissues.

The rapid decrease in sequencing cost has enabled genetic studies to discover rare variants associated with complex diseases and traits. Once this association is identified, the next step is to understand the genetic mechanism of rare variants on how the variants influence diseases. Similar to the hypothesis of common variants, rare variants may affect diseases by regulating gene expression, and recently, several studies have identified the effects of rare variants on gene expression using heritability and expression outlier analyses.

Long-range chromatin interactions in pathogenic gene expression control.

A large number of distal -regulatory elements (REs) have been annotated in the human genome, which plays a central role in orchestrating spatiotemporal gene expression. Since many REs regulate non-adjacent genes, long-range RE-promoter interactions are an important factor in the functional characterization of the engaged REs. In this regard, recent studies have demonstrated that identification of long-range target genes can decipher the effect of genetic mutations residing within REs on abnormal gene expression.