Background Mammalian X and Y chromosomes share a common evolutionary origin and
retain regions of high sequence similarity. Similar sequence content can confound the …

We examined the utility of clinical and research processes in the reanalysis of publicly‐funded
clinical exome sequencing data in Ontario, Canada. In partnership with eight sites, we …

Despite recent progress in the understanding of the genetic etiologies of rare diseases (RDs),
a significant number remain intractable to diagnostic and discovery efforts. Broad data …

Autism spectrum disorder (ASD) is a constellation of neurodevelopmental disorders with
high phenotypic and genetic heterogeneity, complicating the discovery of causative genes. …

Genome-wide sequencing (GWS) is a standard of care for diagnosis of suspected genetic
disorders, but the proportion of patients found to have pathogenic or likely pathogenic variants …

Background NGLY1-CDDG is a congenital disorder of deglycosylation caused by a defective
peptide:N-glycanase (PNG). To date, all but one of the reported patients have been …

Partial duplications of genes can be challenging to detect and interpret and, therefore, likely
represent an underreported cause of human disease. X-linked dominant variants in ATRX …

Background Intellectual Disability (ID) is among the most common global disorders, yet etiology
is unknown in ~30% of patients despite clinical assessment. Whole genome sequencing …

Understanding effects of recent climate warming and changes in catchment conditions on
nutrient cycling and the biology of shallow subarctic lakes is necessary to predict their …

The factors driving initiation of pathological expansion of tandem repeats remain largely
unknown. Here, we assessed the FGF14-SCA27B (GAA)•(TTC) repeat locus in 2,530 …