Different types of human gene mutation may vary in size, from structural variants (SVs) to
single base‐pair substitutions, but what they all have in common is that their nature, size and …

Mutation of the human genome results in three classes of genomic variation: single
nucleotide variants; short insertions or deletions; and large structural variants (SVs). Some …

The widespread use of array–comparative genomic hybridization (array‐CGH) for the
detection of copy number variants (CNVs) in both research and clinical laboratories has …

A wide variety of functional domains exist within human genes. Since different domains vary
in their roles regarding overall gene function, the ability for a mutation in a gene region to …

Relative single base‐pair substitution rates in human genes, derived from a collection of>
2,700 point mutations causing human genetic disease, were related to the results of an …

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While individual non-B DNA structures have been shown to impact gene expression, their
broad regulatory role remains elusive. We utilized genomic variants and expression …

The number of reported germline mutations in human nuclear genes, either underlying or
associated with inherited disease, has now exceeded 100,000 in more than 3,700 different …

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

Background Nonsynonymous mutations in the coding regions of human genes are
responsible for phenotypic differences between humans and for susceptibility to genetic …