SARCP, a Clinical Next-Generation Sequencing Assay for the Detection of Gene Fusions in Sarcomas: A Description of the First 652 Cases.

An amplicon-based targeted next-generation sequencing (NGS) assay for the detection of gene fusions in sarcomas was developed, validated, and implemented. This assay can detect fusions in targeted regions of 138 genes and BCOR internal tandem duplications. This study reviews our experience with testing on the first 652 patients analyzed.

Exploring the Influence of Extended High-Frequency Hearing on Cochlear Functioning at Lower Frequencies.

Purpose: Diminished basal cochlear function, as indicated by elevated hearing thresholds in the extended high frequencies (EHFs), has been associated with lower levels of click-evoked and distortion-product otoacoustic emissions measured at lower frequencies. However, stimulus-frequency otoacoustic emissions (SFOAEs) at low-probe levels are reflection-source emissions that do not share the same generation mechanism as distortion-source emissions. The primary objective of the present study was to examine the influence of hearing thresholds in the EHFs on SFOAEs measured at lower frequencies.

Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies.

Lymphoid malignancies are a heterogeneous group of hematological disorders characterized by a diverse range of morphologic, immunophenotypic, and clinical features. Next-generation sequencing (NGS) is increasingly being applied to delineate the complex nature of these malignancies and identify high-value biomarkers with diagnostic, prognostic, or therapeutic benefit. However, there are various challenges in using NGS routinely to characterize lymphoid malignancies, including pre-analytic issues, such as sequencing DNA from formalin-fixed, paraffin-embedded tissue, and optimizing the bioinformatic workflow for accurate variant calling and filtering.

Retro Oesophageal Transfer of Contralateral C7 in Birth Brachial Plexus Injury - A Retrospective Study.

Presence of available healthy nerve roots on the injured side determines the outcome after nerve reconstruction. Paucity of nerve roots warrants contralateral C7 harvest for optimal results. We aim to study the risks and benefits of retro oesophageal transfer of contralateral C7 root in infants with birth brachial plexus injury.