Clinical Next-Generation Sequencing—A Wild Frontier The technologies and chemistries
underlying next-generation sequencing of DNA are evolving rapidly. This review describes …

This document describes the contribution of clinical criteria to the interpretation of genetic
variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist …

Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of
individuals with genetic diseases, but the systematic identification of such individuals …

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 …

Three inherited autosomal dominant conditions—BRCA-related hereditary breast and
ovarian cancer (HBOC), Lynch syndrome (LS) and familial hypercholesterolemia (FH) …

Background The reported prevalence of Alport syndrome varies from one in 5000 to one in
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …

The frequency of pathogenic/likely pathogenic (P/LP) germ line variants in patients with
myelodysplastic syndrome (MDS) diagnosed at age 40 years or less is 15% to 20 …

Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations
given unique features of the mtDNA genome, including maternal inheritance, variant …

Abstract The recent Chandos House meeting of the Alport Variant Collaborative extended
the indications for screening for pathogenic variants in the COL4A5, COL4A3 and COL4A4 …

Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic
approach for the assessment of autism spectrum disorder (ASD) and fetal structural …