Rapidly evolving sequencing technologies produce data on an unparalleled scale. A central
challenge to the analysis of this data is sequence alignment, whereby sequence reads must …

The Sequence Alignment/Map (SAM) format is a generic alignment format for storing read
alignments against reference sequences, supporting short and long reads (up to 128 Mbp) …

The seminal importance of DNA sequencing to the life sciences, biotechnology and
medicine has driven the search for more scalable and lower-cost solutions. Here we …

We use high-density single nucleotide polymorphism (SNP) genotyping microarrays to
demonstrate the ability to accurately and robustly determine whether individuals are in a …

Estrogens and their bioactive metabolites play key roles in regulating diverse processes in
health and disease. In particular, estrogens and estrogenic metabolites have shown both …

Background The new generation of massively parallel DNA sequencers, combined with the
challenge of whole human genome resequencing, result in the need for rapid and accurate …

We developed a generalized framework for multiplexed resequencing of targeted human
genome regions on the Illumina Genome Analyzer using degenerate indexed DNA bar …

U87MG is a commonly studied grade IV glioma cell line that has been analyzed in at least
1,700 publications over four decades. In order to comprehensively characterize the genome …

The demand for vitamin D analysis in veterinary species is increasing with the growing
knowledge of the extra-skeletal role vitamin D plays in health and disease. The circulating …

We conducted a genome-wide association pooling study for cutaneous melanoma and
performed validation in samples totaling 2,019 cases and 2,105 controls. Using pooling, we …