With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …

Genetic variants, including single-nucleotide variants (SNVs) and copy number variants
(CNVs), in the non-coding regions of the human genome can play an important role in …

Genomic structural variants have long been implicated in phenotypic diversity and human
disease, but dissecting the mechanisms by which they exert their functional impact has …

Both obesity and being underweight have been associated with increased mortality,.
Underweight, defined as a body mass index (BMI)≤ 18.5 kg per m2 in adults and≤− 2 …

Recurrent copy number variations (CNVs) of human 16p11. 2 have been associated with a
variety of developmental/neurocognitive syndromes. In particular, deletion of 16p11. 2 is …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder. Several genetic causes
of ASD have been identified and this has enabled researchers to construct mouse models …

Genomic disorders result from copy‐number variants (CNVs) or submicroscopic
rearrangements of the genome rather than from single nucleotide variants (SNVs). Diverse …

Cellular RNAs are pervasively tagged with diverse chemical moieties, collectively called
epitranscriptomic modifications. The methylation of adenosine at N6 position generates N6 …

Watson‐Crick base‐pair changes, or single‐nucleotide variants (SNV), have long been
known as a source of mutations. However, the extent to which DNA structural variation …

Recent years have witnessed a flurry of important technological and methodological
developments in the discovery and analysis of copy number variations (CNVs), which are …