Recent advances in genome sequencing technologies provide unprecedented opportunities
to characterize individual genomic landscapes and identify mutations relevant for diagnosis …

Next-generation sequencing is becoming the primary discovery tool in human genetics.
There have been many clear successes in identifying genes that are responsible for …

Burkitt lymphoma is characterized by deregulation of MYC, but the contribution of other
genetic mutations to the disease is largely unknown. Here, we describe the first completely …

Background There is considerable interest in the use of next-generation sequencing to help
diagnose unidentified genetic conditions, but it is difficult to predict the success rate in a …

Numerous new disease-gene associations have been identified by whole-exome
sequencing studies in the last few years. However, many cases remain unsolved due to the …

Alternating hemiplegia of childhood (AHC) is a rare, severe neurodevelopmental syndrome
characterized by recurrent hemiplegic episodes and distinct neurological manifestations …

Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes,
including inherited genetic defects, with significant proteinuria being the predominant …

Abstract Ocean Sampling Day was initiated by the EU-funded Micro B3 (Marine Microbial
Biodiversity, Bioinformatics, Biotechnology) project to obtain a snapshot of the marine …

We analyzed four families that presented with a similar condition characterized by
congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable …

High-throughput DNA sequencing (HTS) is of increasing importance in the life sciences.
One of its most prominent applications is the sequencing of whole genomes or targeted …