Assembling and validating bioinformatic pipelines for next-generation sequencing clinical assays
JA SoRelle, M Wachsmann… - Archives of pathology …, 2020 - meridian.allenpress.com
Context.—Clinical next-generation sequencing (NGS) is being rapidly adopted, but analysis
and interpretation of large data sets prompt new challenges for a clinical laboratory setting …
and interpretation of large data sets prompt new challenges for a clinical laboratory setting …
Review of clinical next-generation sequencing
S Yohe, B Thyagarajan - Archives of pathology & …, 2017 - meridian.allenpress.com
Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …
laboratories to test for inherited disorders and tumor mutations. This technology is new for …
[HTML][HTML] Standards and guidelines for validating next-generation sequencing bioinformatics pipelines: a joint recommendation of the Association for Molecular …
Bioinformatics pipelines are an integral component of next-generation sequencing (NGS).
Processing raw sequence data to detect genomic alterations has significant impact on …
Processing raw sequence data to detect genomic alterations has significant impact on …
College of American Pathologists' laboratory standards for next-generation sequencing clinical tests
Context The higher throughput and lower per-base cost of next-generation sequencing
(NGS) as compared to Sanger sequencing has led to its rapid adoption in clinical testing …
(NGS) as compared to Sanger sequencing has led to its rapid adoption in clinical testing …
Clinical validation of targeted next-generation sequencing for inherited disorders
S Yohe, A Hauge, K Bunjer… - … of Pathology and …, 2015 - meridian.allenpress.com
Context Although next-generation sequencing (NGS) can revolutionize molecular
diagnostics, several hurdles remain in the implementation of this technology in clinical …
diagnostics, several hurdles remain in the implementation of this technology in clinical …
Next-generation sequencing informatics: challenges and strategies for implementation in a clinical environment
S Roy, WA LaFramboise… - … of pathology & …, 2016 - meridian.allenpress.com
Context.—Next-generation sequencing (NGS) is revolutionizing the discipline of laboratory
medicine, with a deep and direct impact on patient care. Although it empowers clinical …
medicine, with a deep and direct impact on patient care. Although it empowers clinical …
[HTML][HTML] Application of next generation sequencing in laboratory medicine
The rapid development of next-generation sequencing (NGS) technology, including
advances in sequencing chemistry, sequencing technologies, bioinformatics, and data …
advances in sequencing chemistry, sequencing technologies, bioinformatics, and data …
Laboratory Considerations for Releasing Next-Generation Sequencing Data to Patients
A Moyer, E Loo, E Cadoff, E Konnick… - … of Pathology & …, 2024 - meridian.allenpress.com
Context.—Title 45, section 164.524 of the Code of Federal Regulations states that health
care systems must provide patient health records upon that patient's request. For complex …
care systems must provide patient health records upon that patient's request. For complex …
Bioinformatics for clinical next generation sequencing
BACKGROUND Next generation sequencing (NGS)-based assays continue to redefine the
field of genetic testing. Owing to the complexity of the data, bioinformatics has become a …
field of genetic testing. Owing to the complexity of the data, bioinformatics has become a …
Bioinformatics tools in clinical genomics
DK Crockett, KV Voelkerding, AF Brown… - Genomic Applications in …, 2019 - Springer
The field of DNA sequencing experienced a transformational shift beginning in 2005 with the
introduction of the first high-throughput, massively parallel DNA sequencing platform that …
introduction of the first high-throughput, massively parallel DNA sequencing platform that …