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

Introduction: Chronic granulomatous disease (CGD) is a primary immunodeficiency
characterized by recurrent, life-threatening bacterial and fungal infections of the skin, the …

The identification of specific genetic alterations as key oncogenic drivers and the
development of targeted therapies are together transforming clinical oncology and creating …

Background Cholangiocarcinoma (CCA) is clinically heterogeneous; intra and extrahepatic
CCA have diverse clinical presentations. Next generation sequencing (NGS) technology …

Background Biliary cancers are highly aggressive tumors that are often diagnosed an
advanced disease stage and have a poor outcome with systemic therapy. Recent efforts …

Importance Triple-negative breast cancer (TNBC) classified by transcriptional profiling as the
mesenchymal subtype frequently harbors aberrations in the phosphoinositide 3-kinase …

Anaplastic thyroid cancer (ATC) is a devastating disease with a dismal prognosis. Patients
who have disease confined to the thyroid and who are able to undergo complete surgery …

Lung cancer diagnostics have progressed greatly in the previous decade. Development of
molecular testing to identify an increasing number of potentially clinically actionable genetic …

PURPOSE Anaplastic thyroid carcinoma (ATC) uniformly present with aggressive disease,
but the mutational landscape of tumors varies. We aimed to determine whether tumor …

Biomarker testing is crucial for treatment selection in advanced non-small cell lung cancer
(NSCLC). However, the quantity of available tissue often presents a key constraint for …