New mutations have long been known to cause genetic disease, but their true contribution to
the disease burden can only now be determined using family-based whole-genome or …

The central goal of human genetics is to understand the inherited basis of human variation
in phenotypes, elucidating human physiology, evolution and disease. Rare mutations have …

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) …

Motivation: Exome sequencing has proven to be an effective tool to discover the genetic
basis of Mendelian disorders. It is well established that copy number variants (CNVs) …

Autism Spectrum Disorder (ASD) demonstrates high heritability and familial clustering, yet
the genetic causes remain only partially understood as a result of extensive clinical and …

Reprogramming somatic cells into induced pluripotent stem cells (iPSCs) has been
suspected of causing de novo copy number variation,,,. To explore this issue, here we …

Dissecting the genetic basis of disease risk requires measuring all forms of genetic variation,
including SNPs and copy number variants (CNVs), and is enabled by accurate maps of their …

We have systematically compared copy number variant (CNV) detection on eleven
microarrays to evaluate data quality and CNV calling, reproducibility, concordance across …

Members of the aldehyde dehydrogenase gene (ALDH) superfamily play an important role
in the enzymic detoxification of endogenous and exogenous aldehydes and in the formation …

Microarray methodologies, including array comparative genomic hybridization and single-
nucleotide polymorphism–detecting arrays, are accepted as an appropriate first-tier test for …