As studies of DNA methylation increase in scope, it has become evident that methylation has
a complex relationship with gene expression, plays an important role in defining cell types, …

Evaluating the pathogenicity of a variant is challenging given the plethora of types of genetic
evidence that laboratories consider. Deciding how to weigh each type of evidence is difficult…

The methylation of cytosines in CpG dinucleotides is essential for cellular differentiation and
the progression of many cancers, and it plays an important role in gametic imprinting. To …

Background Developmental disabilities have diverse genetic causes that must be identified
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …

Catastrophic loss of dopaminergic neurons is a hallmark of Parkinson's disease. Despite
the recent identification of genes associated with familial parkinsonism, the etiology of most …

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis
and therapy, much remains to be learned about clinical genome and exome sequencing (…

Read-through fusion transcripts that result from the splicing of two adjacent genes in the
same coding orientation are a recently discovered type of chimeric RNA. We sought to …

Purpose Clinical sequencing emerging in health care may result in secondary findings (SFs).
Methods Seventy-four of 6240 (1.2%) participants who underwent genome or exome …

Background Psychiatric disorders are multigenic diseases with complex etiology that
contribute significantly to human morbidity and mortality. Although clinically distinct, several …

Objective: To assess the prevalence of somatic MTOR mutations in focal cortical dysplasia (FCD)
and of germline MTOR mutations in a broad range of epilepsies. Methods: We …