Technological advancements in cancer diagnostics: Improvements and limitations

A Pulumati, A Pulumati, BS Dwarakanath… - Cancer …, 2023 - Wiley Online Library
Background Cancer is characterized by the rampant proliferation, growth, and infiltration of
malignantly transformed cancer cells past their normal boundaries into adjacent tissues. It is …

Artificial intelligence in digital pathology: a roadmap to routine use in clinical practice

R Colling, H Pitman, K Oien, N Rajpoot… - The Journal of …, 2019 - Wiley Online Library
The use of artificial intelligence will transform clinical practice over the next decade and the
early impact of this will likely be the integration of image analysis and machine learning into …

Best practices for benchmarking germline small-variant calls in human genomes

P Krusche, L Trigg, PC Boutros, CE Mason… - Nature …, 2019 - nature.com
Standardized benchmarking approaches are required to assess the accuracy of variants
called from sequence data. Although variant-calling tools and the metrics used to assess …

ACMG clinical laboratory standards for next-generation sequencing

HL Rehm, SJ Bale, P Bayrak-Toydemir, JS Berg… - Genetics in …, 2013 - nature.com
Next-generation sequencing technologies have been and continue to be deployed in
clinical laboratories, enabling rapid transformations in genomic medicine. These …

[HTML][HTML] Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical …

C Rehder, LJH Bean, D Bick, E Chao, W Chung… - Genetics in …, 2021 - Elsevier
Next-generation sequencing (NGS) technologies are now established in clinical laboratories
as a primary testing modality in genomic medicine. These technologies have reduced the …

ERIC recommendations for TP53 mutation analysis in chronic lymphocytic leukemia—2024 update

J Malcikova, S Pavlova, P Baliakas… - Leukemia, 2024 - nature.com
In chronic lymphocytic leukemia (CLL), analysis of TP53 aberrations (deletion and/or
mutation) is a crucial part of treatment decision-making algorithms. Technological and …

[HTML][HTML] Recommendations for clinical CYP2C19 genoty** allele selection: a report of the Association for Molecular Pathology

VM Pratt, AL Del Tredici, H Hachad, Y Ji… - The Journal of Molecular …, 2018 - Elsevier
This document was developed by the Pharmacogenomics (PGx) Working Group of the
Association for Molecular Pathology Clinical Practice Committee, whose aim is to …

College of American Pathologists' laboratory standards for next-generation sequencing clinical tests

N Aziz, Q Zhao, L Bry, DK Driscoll… - … of Pathology and …, 2015 - meridian.allenpress.com
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 …

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

T Walsh, MK Lee, S Casadei, AM Thornton… - Proceedings of the …, 2010 - pnas.org
Inherited loss-of-function mutations in the tumor suppressor genes BRCA1, BRCA2, and
multiple other genes predispose to high risks of breast and/or ovarian cancer. Cancer …

Personalized cancer medicine: molecular diagnostics, predictive biomarkers, and drug resistance

D Gonzalez de Castro, PA Clarke… - Clinical …, 2013 - Wiley Online Library
The progressive elucidation of the molecular pathogenesis of cancer has fueled the rational
development of targeted drugs for patient populations stratified by genetic characteristics …