Purpose Genomic sequencing has become an increasingly powerful and relevant tool to be
leveraged for the discovery of genetic aberrations underlying rare, Mendelian conditions …

MutationDistiller is a freely available online tool for user-driven analyses of Whole Exome
Sequencing data. It offers a user-friendly interface aimed at clinicians and researchers, who …

Next-generation sequencing (NGS) technologies provide the potential for developing high-
throughput and low-cost platforms for clinical diagnostics. A limiting factor to clinical …

Background A disease-causing mutation refers to a heritable genetic change that is
associated with a specific phenotype (disease). The detection of a mutation from a patient's …

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 …

Next‐generation sequencing (NGS) has become a powerful and efficient tool for routine
mutation screening in clinical research. As each NGS test yields hundreds of variants, the …

Next‐generation sequencing led to the identification of many potential novel disease genes.
The presence of mutations in the same gene in multiple unrelated patients is, however, a …

COMMENTARY to them? It is in data sharing that the ClinGen consortium is filling a critical
gap by facilitating variant adjudication through deposition of clinical assertions into the …

With the exponential reduction of the cost of next‐generation sequencing (NGS), it is no
longer the generation of data but the analysis and interpretation of massive amounts of …

Background Recent comparative studies have brought to our attention how somatic mutation
detection from next-generation sequencing data is still an open issue in bioinformatics …