Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with
unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (…

The first wave of information from the analysis of the human genome revealed SNPs to be
the main source of genetic and phenotypic human variation. However, the advent of genome-…

DNA copy number variation has long been associated with specific chromosomal rearrangements
and genomic disorders, but its ubiquity in mammalian genomes was not fully realized …

Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be
fully ascertained. We have constructed a first-generation CNV map of the human genome …

We identified 255 loci across the human genome that contain genomic imbalances among
unrelated individuals. Twenty-four variants are present in > 10% of the individuals that we …

Presented here is a genome sequence of an individual human. It was produced from ∼32
million random DNA fragments, sequenced by Sanger dideoxy technology and assembled …

Structural variation (copy number variation [CNV] including deletion and duplication,
translocation, inversion) of chromosomes has been identified in some individuals with autism …

Structural variations of DNA greater than 1 kilobase in size account for most bases that vary
among human genomes, but are still relatively under-ascertained. Here we use tiling …

Over the past decade, the Database of Genomic Variants (DGV; http://dgv.tcag.ca/ ) has
provided a publicly accessible, comprehensive curated catalogue of structural variation (SV) …

We used high-resolution SNP genotyping to identify regions of genomic gain and loss in the
genomes of 212 medulloblastomas, malignant pediatric brain tumors. We found focal …