EpiDiP/NanoDiP: a versatile unsupervised machine learning edge computing platform for epigenomic tumour diagnostics.

Details

Ressource 1Download: 38576030.pdf (2940.79 [Ko])
State: Public
Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_AFEC867AF260
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
EpiDiP/NanoDiP: a versatile unsupervised machine learning edge computing platform for epigenomic tumour diagnostics.
Journal
Acta neuropathologica communications
Author(s)
Hench J., Hultschig C., Brugger J., Mariani L., Guzman R., Soleman J., Leu S., Benton M., Stec I.M., Hench I.B., Hoffmann P., Harter P., Weber K.J., Albers A., Thomas C., Hasselblatt M., Schüller U., Restelli L., Capper D., Hewer E., Diebold J., Kolenc D., Schneider U.C., Rushing E., Della Monica R., Chiariotti L., Sill M., Schrimpf D., von Deimling A., Sahm F., Kölsche C., Tolnay M., Frank S.
ISSN
2051-5960 (Electronic)
ISSN-L
2051-5960
Publication state
Published
Issued date
04/04/2024
Peer-reviewed
Oui
Volume
12
Number
1
Pages
51
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
DNA methylation analysis based on supervised machine learning algorithms with static reference data, allowing diagnostic tumour typing with unprecedented precision, has quickly become a new standard of care. Whereas genome-wide diagnostic methylation profiling is mostly performed on microarrays, an increasing number of institutions additionally employ nanopore sequencing as a faster alternative. In addition, methylation-specific parallel sequencing can generate methylation and genomic copy number data. Given these diverse approaches to methylation profiling, to date, there is no single tool that allows (1) classification and interpretation of microarray, nanopore and parallel sequencing data, (2) direct control of nanopore sequencers, and (3) the integration of microarray-based methylation reference data. Furthermore, no software capable of entirely running in routine diagnostic laboratory environments lacking high-performance computing and network infrastructure exists. To overcome these shortcomings, we present EpiDiP/NanoDiP as an open-source DNA methylation and copy number profiling suite, which has been benchmarked against an established supervised machine learning approach using in-house routine diagnostics data obtained between 2019 and 2021. Running locally on portable, cost- and energy-saving system-on-chip as well as gpGPU-augmented edge computing devices, NanoDiP works in offline mode, ensuring data privacy. It does not require the rigid training data annotation of supervised approaches. Furthermore, NanoDiP is the core of our public, free-of-charge EpiDiP web service which enables comparative methylation data analysis against an extensive reference data collection. We envision this versatile platform as a useful resource not only for neuropathologists and surgical pathologists but also for the tumour epigenetics research community. In daily diagnostic routine, analysis of native, unfixed biopsies by NanoDiP delivers molecular tumour classification in an intraoperative time frame.
Keywords
Humans, Epigenomics, Unsupervised Machine Learning, Cloud Computing, Neoplasms/diagnosis, Neoplasms/genetics, DNA Methylation, Artificial intelligence, Copy number profiling, Cryptocurrency miner, Digital pathology, Dimension reduction, Edge computing, Epigenetics, Intraoperative, Methylation, Methylation sequencing, Methylome, Microarray, Nanopore sequencing, Oncology, Same-day classification, SoC, Tumour, UMAP, Unsupervised machine learning, gpGPU
Pubmed
Web of science
Open Access
Yes
Create date
05/04/2024 12:16
Last modification date
07/05/2024 6:17
Usage data