[HTML][HTML] Bioinformatics: from NGS data to biological complexity in variant detection and oncological clinical practice

S Dotolo, R Esposito Abate, C Roma, D Guido… - Biomedicines, 2022 - mdpi.com
The use of next-generation sequencing (NGS) techniques for variant detection has become
increasingly important in clinical research and in clinical practice in oncology. Many cancer …

[HTML][HTML] A next-generation sequencing approach for the detection of mixed species in canned tuna

R Klapper, A Velasco, M Döring, U Schröder… - Food Chemistry: X, 2023 - Elsevier
Tuna cans are relevant seafood products for which mixtures of different tuna species are not
allowed according to European regulations. In order to support the prevention of food fraud …

[HTML][HTML] A curriculum for genomic education of molecular genetic pathology fellows: a report of the Association for Molecular Pathology Training and Education …

JN Rosenbaum, AB Berry, AJ Church, K Crooks… - The Journal of Molecular …, 2021 - Elsevier
Molecular genetic pathology (MGP) is a subspecialty of pathology and medical genetics and
genomics. Genomic testing, which is defined as that which generates large data sets and …

[HTML][HTML] MicroRNA sequencing analysis in obstructive sleep apnea and depression: anti-oxidant and MAOA-inhibiting effects of miR-15b-5p and miR-92b-3p through …

YC Chen, PY Hsu, MC Su, TW Chen, CC Hsiao… - Antioxidants, 2021 - mdpi.com
The aim of this study was to identify novel microRNAs related to obstructive sleep apnea
(OSA) characterized by intermittent hypoxia with re-oxygenation (IHR) injury. Illumina MiSeq …

[HTML][HTML] Virus sequencing performance during the SARS-CoV-2 pandemic: a retrospective analysis of data from multiple rounds of external quality assessment in …

JV Camp, E Puchhammer-Stöckl, SW Aberle… - Frontiers in Molecular …, 2024 - frontiersin.org
Introduction: A notable feature of the 2019 coronavirus disease (COVID-19) pandemic was
the widespread use of whole genome sequencing (WGS) to monitor severe acute …

[HTML][HTML] SCHOOL: software for clinical health in oncology for omics laboratories

CK Raulerson, EC Villa, JA Mathews… - Journal of Pathology …, 2022 - Elsevier
Bioinformatics analysis is a key element in the development of in-house next-generation
sequencing assays for tumor genetic profiling that can include both tumor DNA and RNA …

[HTML][HTML] DEEPGENTM—A Novel Variant Calling Assay for Low Frequency Variants

BT Hermann, S Pfeil, N Groenke, S Schaible, R Kunze… - Genes, 2021 - mdpi.com
Detection of genetic variants in clinically relevant genomic hot-spot regions has become a
promising application of next-generation sequencing technology in precision oncology …

ANSWER: annotation software for electronic reporting

C Raulerson, G Jimenez, B Wakeland… - JCO Clinical Cancer …, 2022 - ascopubs.org
PURPOSE To better use genetic testing, which is used by clinicians to explain the molecular
mechanism of disease and to suggest clinical actionability and new treatment options …

In silico approaches to proficiency testing: considerations for continued feasibility

IS Hagemann, A Zehir, CJ Suarez… - The Journal of …, 2023 - jmdjournal.org
Next-generation sequencing (NGS) has become a ubiquitous method for clinical molecular
testing. Advantages of NGS include high-throughput sequencing, low cost per base, flexible …

Next-Generation Sequencing Informatic Architecture Considerations

WB Glen, CA Schandl - Clinical Applications of Nucleic Acid Amplification, 2023 - Springer
Clinically relevant sequencing methodologies continue to expand in number, diversity,
complexity, and scale. This evolving and varied landscape requires unique implementations …