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 …

Objective To report the design and implementation of the Right Drug, Right Dose, Right
Time—Using Genomic Data to Individualize Treatment protocol that was developed to test the …

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 . …

Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in
the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the …

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 & AIMS: New-onset diabetes in patients with pancreatic cancer is likely to
be a paraneoplastic phenomenon caused by tumor-secreted products. We aimed to identify …

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, …