Oncotator is a tool for annotating genomic point mutations and short nucleotide
insertions/deletions (indels) with variant‐and gene‐centric information relevant to cancer …

An international consortium released the first draft sequence of the human genome 10 years
ago. Although the analysis of this data has suggested the genetic underpinnings of many …

Background Over the past decade the workflow system paradigm has evolved as an efficient
and user-friendly approach for developing complex bioinformatics applications. Two popular …

Smith–Magenis syndrome (SMS) is a complex genetic disorder caused by interstitial 17p11.
2 deletions encompassing multiple genes, including the retinoic acid induced 1 gene—RAI1 …

TREAT (T argeted RE-sequencing A nnotation T ool) is a tool for facile navigation and
mining of the variants from both targeted resequencing and whole exome sequencing. It …

In recent studies, exome sequencing has proven to be a successful screening tool for the
identification of candidate genes causing rare genetic diseases. Although underlying …

Background The advent of massively parallel sequencing technologies (Next Generation
Sequencing, NGS) profoundly modified the landscape of human genetics. In particular …

The massive use of Next-Generation Sequencing (NGS) technologies is uncovering an
unexpected amount of variability. The functional characterization of such variability …

Background The popularity of massively parallel exome and transcriptome sequencing
projects demands new data mining tools with a comprehensive set of features to support a …

Afemale newborn was referred at birth to our hospital because of respiratory distress. Her
family history was unremarkable except for the first-degree consanguinity of her parents …