From patterns to patients: Advances in clinical machine learning for cancer diagnosis, prognosis, and treatment

K Swanson, E Wu, A Zhang, AA Alizadeh, J Zou - Cell, 2023 - cell.com
Machine learning (ML) is increasingly used in clinical oncology to diagnose cancers, predict
patient outcomes, and inform treatment planning. Here, we review recent applications of ML …

Computational immunogenomic approaches to predict response to cancer immunotherapies

V Addala, F Newell, JV Pearson, A Redwood… - Nature Reviews …, 2024 - nature.com
Cancer immunogenomics is an emerging field that bridges genomics and immunology. The
establishment of large-scale genomic collaborative efforts along with the development of …

Quartet RNA reference materials improve the quality of transcriptomic data through ratio-based profiling

Y Yu, W Hou, Y Liu, H Wang, L Dong, Y Mai… - Nature …, 2024 - nature.com
Certified RNA reference materials are indispensable for assessing the reliability of RNA
sequencing to detect intrinsically small biological differences in clinical settings, such as …

Towards accurate and reliable resolution of structural variants for clinical diagnosis

Z Liu, R Roberts, TR Mercer, J Xu, FJ Sedlazeck… - Genome biology, 2022 - Springer
Structural variants (SVs) are a major source of human genetic diversity and have been
associated with different diseases and phenotypes. The detection of SVs is difficult, and a …

The screening, identification, design and clinical application of tumor-specific neoantigens for TCR-T cells

J Li, Z Xiao, D Wang, L Jia, S Nie, X Zeng, W Hu - Molecular Cancer, 2023 - Springer
Recent advances in neoantigen research have accelerated the development of tumor
immunotherapies, including adoptive cell therapies (ACTs), cancer vaccines and antibody …

A multicenter study benchmarking single-cell RNA sequencing technologies using reference samples

W Chen, Y Zhao, X Chen, Z Yang, X Xu, Y Bi… - Nature …, 2021 - nature.com
Comparing diverse single-cell RNA sequencing (scRNA-seq) datasets generated by
different technologies and in different laboratories remains a major challenge. Here we …

Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients

M Menzel, S Ossowski, S Kral, P Metzger… - NPJ Precision …, 2023 - nature.com
A growing number of druggable targets and national initiatives for precision oncology
necessitate broad genomic profiling for many cancer patients. Whole exome sequencing …

A critical spotlight on the paradigms of FFPE-DNA sequencing

TA Steiert, G Parra, M Gut, N Arnold… - Nucleic Acids …, 2023 - academic.oup.com
In the late 19th century, formalin fixation with paraffin-embedding (FFPE) of tissues was
developed as a fixation and conservation method and is still used to this day in routine …

Structural variant analysis of a cancer reference cell line sample using multiple sequencing technologies

K Talsania, T Shen, X Chen, E Jaeger, Z Li, Z Chen… - Genome Biology, 2022 - Springer
Background The cancer genome is commonly altered with thousands of structural
rearrangements including insertions, deletions, translocation, inversions, duplications, and …

Scalable and efficient DNA sequencing analysis on different compute infrastructures aiding variant discovery

F Hanssen, MU Garcia, L Folkersen… - NAR Genomics and …, 2024 - academic.oup.com
DNA variation analysis has become indispensable in many aspects of modern biomedicine,
most prominently in the comparison of normal and tumor samples. Thousands of samples …