Despite thousands of genetic loci identified to date, a large proportion of genetic variation
predisposing to complex disease and traits remains unaccounted for. Advances in …

High-throughput sequencing technologies are revolutionizing the life sciences. The past 12
months have seen a burst of genome sequences from non-model organisms, in each case …

Background High-throughput DNA sequencing technologies are generating vast amounts of
data. Fast, flexible and memory efficient implementations are needed in order to facilitate …

Here we describe the insights gained from sequencing the whole genomes of 2,636
Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions …

Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences
or genotypes. However, in applications of the next-generation sequencing (NGS), accurate …

Mammalian pre-implantation development is a complex process involving dramatic changes
in the transcriptional architecture,,,. We report here a comprehensive analysis of …

Background The genetic cause of intellectual disability in most patients is unclear because
of the absence of morphological clues, information about the position of such genes, and …

Genetic studies have revealed thousands of loci predisposing to hundreds of human
diseases and traits, revealing important biological pathways and defining novel therapeutic …

Meaningful analysis of next-generation sequencing (NGS) data, which are produced
extensively by genetics and genomics studies, relies crucially on the accurate calling of …

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 …