Purpose Sanger sequencing is a mainstay for the identification of gene mutations used in
molecular diagnostic laboratories. However, in autosomal recessive disorders, failure of …

Disclaimer: These recommendations are designed primarily as an educational resource for
medical geneticists and other health-care providers to help them provide quality medical …

Yang et al. 1 report in the Journal the results of using whole-exome sequencing to make a
molecular diagnosis in 62 of 250 cases (25%) sequenced by the clinical sequencing …

Knowledge about the clinical implications of individual genetic variants, genes, and
genomics is growing rapidly. As a result, interpretations that were made at one time may …

ACMG previously developed recommendations for standards for interpretation of sequence
variations. We now present the updated revised recommendations. Here, we describe six …

Eur J Clin Invest 2011; 41 (5): 561–567 Abstract Background Advances in the understanding
of complex trait genetics have always been enabled by advances in genomic technology …

When a potential disease-causing variant is detected in a proband, parental testing is used
to determine the mode of inheritance. This study demonstrates that next-generation …

Next-generation sequencing technologies have been and continue to be deployed in
clinical laboratories, enabling rapid transformations in genomic medicine. These …

Context.—Next-generation sequencing–based assays are increasingly used in clinical
molecular laboratories to detect somatic variants in solid tumors and hematologic …

Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for
the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and …