[HTML][HTML] Guidelines for validation of next-generation sequencing–based oncology panels: a joint consensus recommendation of the Association for Molecular …

LJ Jennings, ME Arcila, C Corless… - The Journal of molecular …, 2017 - Elsevier
Next-generation sequencing (NGS) methods for cancer testing have been rapidly adopted
by clinical laboratories. To establish analytical validation best practice guidelines for NGS …

Reference standards for next-generation sequencing

SA Hardwick, IW Deveson, TR Mercer - Nature Reviews Genetics, 2017 - nature.com
Next-generation sequencing (NGS) provides a broad investigation of the genome, and it is
being readily applied for the diagnosis of disease-associated genetic features. However, the …

[HTML][HTML] Next-generation sequencing and its clinical application

D Qin - Cancer biology & medicine, 2019 - ncbi.nlm.nih.gov
Next-generation sequencing (NGS) is a new technology used for DNA and RNA sequencing
and variant/mutation detection. NGS can sequence hundreds and thousands of genes or …

VarAFT: a variant annotation and filtration system for human next generation sequencing data

JP Desvignes, M Bartoli, V Delague… - Nucleic acids …, 2018 - academic.oup.com
With the rapidly developing high-throughput sequencing technologies known as next
generation sequencing or NGS, our approach to gene hunting and diagnosis has drastically …

[HTML][HTML] Next generation sequencing and bioinformatics analysis of family genetic inheritance

AM Kanzi, JE San, B Chimukangara, E Wilkinson… - Frontiers in …, 2020 - frontiersin.org
Mendelian and complex genetic trait diseases continue to burden and affect society both
socially and economically. The lack of effective tests has hampered diagnosis thus, the …

Unbiased detection of respiratory viruses by use of RNA sequencing-based metagenomics: a systematic comparison to a commercial PCR panel

EH Graf, KE Simmon, KD Tardif, W Hymas… - Journal of clinical …, 2016 - Am Soc Microbiol
Current infectious disease molecular tests are largely pathogen specific, requiring test
selection based on the patient's symptoms. For many syndromes caused by a large number …

[HTML][HTML] Comparing the significance of the utilization of next generation and third generation sequencing technologies in microbial metagenomics

I Akacin, Ş Ersoy, O Doluca, M Güngörmüşler - Microbiological Research, 2022 - Elsevier
Since the exploration of sequencing began in 2005, third and next-generation sequencing
(TGS and NGS) technologies have fundamentally changed metagenomics research. These …

[HTML][HTML] Current practices and guidelines for clinical next-generation sequencing oncology testing

SP Strom - Cancer biology & medicine, 2016 - ncbi.nlm.nih.gov
Next-generation sequencing (NGS) has been rapidly integrated into molecular pathology,
dramatically increasing the breadth genomic of information available to oncologists and their …

[HTML][HTML] Using R and bioconductor in clinical genomics and transcriptomics

JL Sepulveda - The Journal of Molecular Diagnostics, 2020 - Elsevier
Bioinformatics pipelines are essential in the analysis of genomic and transcriptomic data
generated by next-generation sequencing (NGS). Recent guidelines emphasize the need …

[HTML][HTML] Defining KIR and HLA class I genotypes at highest resolution via high-throughput sequencing

PJ Norman, JA Hollenbach, N Nemat-Gorgani… - The American Journal of …, 2016 - cell.com
The physiological functions of natural killer (NK) cells in human immunity and reproduction
depend upon diverse interactions between killer cell immunoglobulin-like receptors (KIRs) …