Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …

Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Purpose Integrating genomic sequencing in clinical care requires standardization of variant
interpretation practices. The Clinical Genome Resource has established expert panels to …

Purpose Whole-exome and whole-genome sequencing have transformed the discovery of
genetic variants that cause human Mendelian disease, but discriminating pathogenic from …

In the field of cancer genomics, the broad availability of genetic information offered by next-
generation sequencing technologies and rapid growth in biomedical publication has led to …

We report on the sequencing of 10,545 human genomes at 30×–40× coverage with an
emphasis on quality metrics and novel variant and sequence discovery. We find that 84% of …

The classification of genetic variants represents a major challenge in the post-genome era
by virtue of their extraordinary number and the complexities associated with ascribing a …

Given the global burden of heart failure, strategies to understand the underlying cause or to
provide prognostic information are critical to reducing the morbidity and mortality associated …

Genomic tests expand diagnostic and screening opportunities but also identify genetic
variants of uncertain clinical significance (VUSs). Only a minority of VUSs are likely to prove …

By informing timely targeted treatments, rapid whole-genome sequencing can improve the
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …