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

Abstract The Human Gene Mutation Database (HGMD®) is a comprehensive collection of
germline mutations in nuclear genes that underlie, or are associated with, human inherited …

Although genomic research has predominantly relied on phenotypic ascertainment of
individuals affected with heritable disease, the falling costs of sequencing allow …

Recommendations for laboratories to report incidental findings from genomic tests have
stimulated interest in such results. In order to investigate the criteria and processes for …

Each protein must be synthesized with the correct amino acid sequence, folded into its
native structure, and transported to a relevant subcellular location and protein complex. If …

BACKGROUND Next-generation sequencing (NGS) data are used for both clinical care and
clinical research. DNA sequence variants identified using NGS are often returned to …

Importance Large-scale DNA sequencing identifies incidental rare variants in established
Mendelian disease genes, but the frequency of related clinical phenotypes in unselected …

Increasing usage of next-generation sequencing techniques pushed during the last decade
cardiogenetic diagnostics leading to the identification of a huge number of genetic variants …

Background A genetic cause can be identified in 30% of noncompaction cardiomyopathy
patients (NCCM) with clinical features ranging from asymptomatic cardiomyopathy to heart …

Despite rapid technical progress and demonstrable effectiveness for some types of
diagnosis and therapy, much remains to be learned about clinical genome and exome …