Background Recurrent microdeletions and microduplications of ∼555 kb at 16p11.2 confer
susceptibility to autism spectrum disorder (ASD) in up to 1% of ASD patients. No physical or …

Numerous types of DNA variation exist, ranging from SNPs to larger structural alterations
such as copy number variants (CNVs) and inversions. Alignment of DNA sequence from …

BACKGROUND: The Personal Genome Project Canada is a comprehensive public data
resource that integrates whole genome sequencing data and health information. We describe …

Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D,
Joseph‐George AM, Noakes C, Fairbrother‐Davies C, Roberts W, Vincent J, Weksberg R, …

A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting
a gene or multiple genes will manifest as disease. Increasing recognition of gene dosage …

Warsaw breakage syndrome (WBS) is a recently recognized DDX11‐related rare
cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, …

Background Complex genomic structural variations, involving chromoanagenesis, have
been implicated in multiple congenital anomalies and abnormal neurodevelopment. Familial …

Background There are four known pericentromeric euchromatic variants of chromosome 9
in the literature that are increasingly being observed in diagnostic cytogenetic laboratories. …

Humanized mouse models are useful tools to explore the functional and regulatory differences
between human and murine orthologous genes. We have combined a bioinformatics …

Williams-Beuren syndrome (WBS) is most commonly caused by a 1.5-Mb hemizygous deletion
of chromosome 7q11.23. Other genomic rearrangements of this region have also been …