Chromosomal Junction Detection from Whole-Genome Sequencing on Formalin-Fixed, Paraffin-Embedded Tumors.

DNA junctions (DNAJs) frequently impact clinically relevant genes in tumors and are important for diagnostic and therapeutic purposes. Although routinely screened through fluorescence in situ hybridization assays, such testing only allows the interrogation of single-gene regions or known fusion partners. Comprehensive assessment of DNAJs present across the entire genome can only be determined from whole-genome sequencing.

Optimizing clinical cytology touch preparations for next generation sequencing.

Intraoperative diagnosis is routinely performed on cytology touch preparations (TPs) from core needle biopsies (CNBs). Current interest promotes their utility as an important source of patient tissue for clinical genomic testing. Herein we present whole genome structural variant analysis (SVA) from mate-pair sequencing (MPseq) and whole exome sequencing (WES) mutation calling in DNA directly whole genome amplified (WGA) from TPs.

Formalin pigment artifact deposition in autopsy tissue: predisposing factors, patterns of distribution and methods for removal.

Formalin pigment deposition is a known artifact of autopsy histology, often anecdotally associated with decomposition of bodies. However, there is minimal data within the forensic literature demonstrating an association between formalin pigment deposition and length of postmortem interval. Furthermore, there is minimal data concerning other predisposing factors and patterns of distribution of formalin pigment deposition.

Neoantigenic Potential of Complex Chromosomal Rearrangements in Mesothelioma.

Introduction: Malignant pleural mesothelioma is a disease primarily associated with exposure to the carcinogen asbestos. Whereas other carcinogen-related tumors are associated with a high tumor mutation burden, mesothelioma is not. We sought to resolve this discrepancy.

Triple Antiplatelet Therapy and Combinations with Oral Anticoagulants After Stent Implantation.

Triple oral anticoagulation or triple antiplatelet therapies may be administered for various reasons. They reduce cardiac complications following percutaneous coronary intervention and stroke or other thromboembolic phenomenon in conditions such as atrial fibrillation. There is an elevated risk of severe bleeding, so it is necessary to balance risk and benefits.

Is there a need for "triple therapy"? Role of anticoagulation with dual antiplatelet therapy in acute coronary syndromes (ATLAS Study & TRAP Study).

In the past two decades there has been a succession of advances in the development of anticoagulant and antiplatelet therapies to be used in the treatment of ACS. Despite optimal dual antiplatelet therapy, nearly 10-12 % of patients still face a risk of death or myocardial infarction one year following PCI. This large residual risk provides the impetus for the development of more effective strategies.