Bioinformatics pipelines are an integral component of next-generation sequencing (NGS).
Processing raw sequence data to detect genomic alterations has significant impact on …

Advanced cholangiocarcinoma continues to harbor a difficult prognosis and therapeutic
options have been limited. During the course of a clinical trial of whole genomic sequencing …

Tandem DNA repeats vary in the size and sequence of each unit (motif). When expanded,
these tandem DNA repeats have been associated with more than 40 monogenic disorders 1 . …

Recent studies have offered ample insight into genome-wide expression patterns to define
pancreatic ductal adenocarcinoma (PDAC) subtypes, although there remains a lack of …

Background Massive parallel sequencing has the potential to replace microarrays as the
method for transcriptome profiling. Currently there are two protocols: full-length RNA …

BACKGROUND Next generation sequencing (NGS)-based assays continue to redefine the
field of genetic testing. Owing to the complexity of the data, bioinformatics has become a …

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations
of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role …

Significant barriers, such as lack of professional guidelines, specialized training for interpretation
of pharmacogenomics (PGx) data, and insufficient evidence to support clinical utility, …

Gain-of-function mutations in some genes underlie neurodegenerative conditions, whereas
loss-of-function mutations in the same genes have distinct phenotypes. This appears to be …

As reliable, efficient genome sequencing becomes ubiquitous, the need for similarly reliable
and efficient variant calling becomes increasingly important. The Genome Analysis Toolkit (…