Background Gene-set enrichment analysis is a useful technique to help functionally characterize
large gene lists, such as the results of gene expression experiments. This technique …

The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments
in reciprocal social interaction and communication, and the presence of restricted and …

INTRODUCTION Advancing whole-genome precision medicine requires understanding
how gene expression is altered by genetic variants, especially those that are far outside of …

Pathway enrichment analysis helps researchers gain mechanistic insight into gene lists
generated from genome-scale (omics) experiments. This method identifies biological pathways …

Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic …

A major contribution to the genome variability among individuals comes from deletions and
duplications — collectively termed copy number variations (CNVs) — which alter the diploid …

Purpose Recurrent glioblastoma multiforme (GBM) is incurable with current therapies. Biallelic
mismatch repair deficiency (bMMRD) is a highly penetrant childhood cancer syndrome …

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has …

We are performing whole-genome sequencing of families with autism spectrum disorder (ASD)
to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic …

Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds
of susceptibility loci. Previous microarray and exome-sequencing studies have examined …