Summary In 2020, the National Human Genome Research Institute (NHGRI) made ten" bold
predictions," including that" the clinical relevance of all encountered genomic variants will be …

Whole genome sequencing (WGS) is becoming the preferred method for molecular genetic
diagnosis of rare and unknown diseases and for identification of actionable cancer drivers …

Purpose Adoption of genome sequencing (GS) as a first-line test requires evaluation of its
diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse …

About 37 million people in the United States have chronic kidney disease, a disease that
encompasses multiple causes. About 10% or more of kidney diseases in adults and as …

Objectives First, to determine the incremental yield of whole‐genome sequencing (WGS)
over quantitative fluorescence polymerase chain reaction (QF‐PCR)/chromosomal …

It is usually considered that only 5% of all pituitary neuroendocrine tumours are due to
inheritable causes. Since this estimate was reported, however, multiple genetic defects …

Multiplexed Assays of Variant Effects (MAVEs) can test all possible single variants in a gene
of interest. The resulting saturation-style functional data may help resolve variant …

Abstract The Clinical Genome Resource (ClinGen) is a National Institutes of Health-funded
program founded 10 years ago that defines the clinical relevance of genes and variants for …

Background Studies indicate that variants of uncertain significance are more common in non-
European populations due to lack of a diversity in population databases. This difference has …

The use of next-generation sequencing technologies such as exome and genome
sequencing in research and clinical care has transformed our understanding of the …