Rapid advances in genomic technologies have facilitated the identification pathogenic
variants causing human disease. We report siblings with developmental and epileptic …

Over the last decade next generation sequencing (NGS) has been extensively used to
identify new pathogenic mutations and genes causing rare genetic diseases. The efficient …

High‐throughput sequencing technologies have become fundamental for the identification
of disease‐causing mutations in human genetic diseases both in research and clinical …

Next-generation sequencing (NGS) techniques allow high-throughput detection of a vast
amount of variations in a cost-efficient manner. However, there still are inconsistencies and …

The increase in sequencing capacity, reduction in costs, and national and international
coordinated efforts have led to the widespread introduction of next-generation sequencing …

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 …

As genomic sequencing expands, so does our knowledge of the link between genetic
variation and disease. Deeper catalogs of variant frequencies improve identification of …

Recent advances in next‐generation sequencing (NGS) have given rise to new challenges
due to the difficulties in variant pathogenicity interpretation and large dataset management …

Introduction Concise visualization is critical to present large amounts of information in a
minimal space that can be interpreted quickly. Clinical applications in precision medicine …

Family samples, which can be enriched for rare causal variants by focusing on families with
multiple extreme individuals and which facilitate detection of de novo mutation events …