Next‐generation sequencing (NGS) is the most powerful diagnostic tool since the
roentgenogram. NGS will facilitate diagnosis on a massive scale, allowing interrogation of …

Rare genetic disorders, when considered together, are relatively common. Despite
advancements in genetics and genomics technologies as well as increased understanding …

The introduction of next generation sequencing (NGS) has led to an exponential increase of
elucidated genetic causes in both extremely rare diseases and common but heterogeneous …

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 …

Mutation detection through exome sequencing allows simultaneous analysis of all coding
sequences of genes. However, it cannot yet replace S anger sequencing (SS) in diagnostics …

Desai AN, Jere A. Next‐generation sequencing: ready for the clinics? Next‐generation
sequencing (NGS) has transformed genomic research by decreasing the cost of sequencing …

Abstract The Human Gene Mutation Database (HGMD®) constitutes a comprehensive
collection of published germline mutations in nuclear genes that underlie, or are closely …

Next‐generation sequencing (NGS) methods are being adopted by genome diagnostics
laboratories worldwide. However, implementing NGS‐based tests according to diagnostic …

Next-generation sequencing (NGS) provides a broad investigation of the genome, and it is
being readily applied for the diagnosis of disease-associated genetic features. However, the …

Next‐generation sequencing (NGS) has allowed a tremendous progress in the
characterization of the molecular bases of genetic diseases and the last annual American …