Design of targeted, capture-based, next generation sequencing tests for precision cancer therapy

IS Hagemann, CE Cottrell, CM Lockwood - Cancer genetics, 2013 - Elsevier
In cancer medicine, next generation sequencing (NGS) has emerged as a practical method
to generate patient-and tumor-specific genetic data for optimal selection of targeted …

[HTML][HTML] Neurogenomics: An opportunity to integrate neuroscience, genomics and bioinformatics research in Africa

TK Karikari, J Aleksic - Applied & translational genomics, 2015 - Elsevier
Modern genomic approaches have made enormous contributions to improving our
understanding of the function, development and evolution of the nervous system, and the …

The founding charter of the Genomic Observatories Network

N Davies, D Field, L Amaral-Zettler, MS Clark… - …, 2014 - academic.oup.com
The co-authors of this paper hereby state their intention to work together to launch the
Genomic Observatories Network (GOs Network) for which this document will serve as its …

A model study of in silico proficiency testing for clinical next-generation sequencing

EJ Duncavage, HJ Abel, JD Merker… - … of pathology & …, 2016 - meridian.allenpress.com
Context.—Most current proficiency testing challenges for next-generation sequencing
assays are methods-based proficiency testing surveys that use DNA from characterized …

Artificial intelligence approach for variant reporting

MG Zomnir, L Lipkin, M Pacula… - JCO clinical cancer …, 2018 - ascopubs.org
Purpose Next-generation sequencing technologies are actively applied in clinical oncology.
Bioinformatics pipeline analysis is an integral part of this process; however, humans cannot …

Beyond panel-based testing: Exome analysis increases sensitivity for diagnosis of genetic kidney disease

PC Wilson, L Love-Gregory, M Corliss, S McNulty… - Kidney360, 2020 - journals.lww.com
Background Next-generation sequencing (NGS) is a useful tool for evaluating patients with
suspected genetic kidney disease. Clinical practice relies on the use of targeted gene …

GeneMed: an informatics hub for the coordination of next-generation sequencing studies that support precision oncology clinical trials

Y Zhao, EC Polley, MC Li, CJ Lih… - Cancer …, 2015 - journals.sagepub.com
We have developed an informatics system, GeneMed, for the National Cancer Institute (NCI)
molecular profiling-based assignment of cancer therapy (MPACT) clinical trial …

[HTML][HTML] Laboratory information systems and instrument software lack basic functionality for molecular laboratories

C Myers, M Swadley, AB Carter - The Journal of Molecular Diagnostics, 2018 - Elsevier
Laboratory information systems (LISs) have some basic functionality necessary for
molecular workflow that is glaringly absent. This study determined functionality gaps of LISs …

Available resources and challenges for the clinical annotation of somatic variations

CI Dumur - Cancer cytopathology, 2014 - Wiley Online Library
Next‐generation sequencing (NGS) has become an important tool for identifying clinically
relevant variants in both inherited disorders and oncology. Variants annotation that enables …

[HTML][HTML] System for informatics in the molecular pathology laboratory: an open-source end-to-end solution for next-generation sequencing clinical data management

W Kang, S Kadri, R Puranik, MN Wurst, SA Patil… - The Journal of Molecular …, 2018 - Elsevier
Next-generation sequencing (NGS) diagnostic assays increasingly are becoming the
standard of care in oncology practice. As the scale of an NGS laboratory grows …