Aims: Next-generation sequencing is being implemented in the clinical laboratory
environment for the purposes of candidate causal variant discovery in patients affected with …

Over the last 10 years, next‐generation sequencing (NGS) has transformed genomic
research through substantial advances in technology and reduction in the cost of …

The field of medical genomics involves translating high throughput genetic methods to the
clinic, in order to improve diagnostic efficiency and treatment decision making. Technical …

In this article, we introduce the variant call format–diagnostic annotation and reporting tool
(VCF-DART), a customized analysis pipeline tool for the rapid annotation of variants from …

The increasing size and complexity of exome/genome sequencing data requires new tools
for clinical geneticists to discover disease-causing variants. Bottlenecks in identifying the …

Recent technological advances have created challenges for geneticists and a need to adapt
to a wide range of new bioinformatics tools and an expanding wealth of publicly available …

Next-generation sequencing has become a powerful tool in personalized medicine. Exomes
or even whole genomes of patients suffering from rare diseases are screened for sequence …

The 2011 annual scientific meeting of the Human Genome Variation Society (HGVS) was
held on the 11th of October, in Montreal, Canada. The theme of this meeting was “Exome …

Purpose Retrospective interpretation of sequenced data in light of the current literature is a
major concern of the field. Such reinterpretation is manual and both human resources and …

Rare diseases occur in a smaller proportion of the general population, which is variedly
defined as less than 200 000 individuals (US) or in less than 1 in 2000 individuals (Europe) …