Development and validation of diagnostic and prognostic models based on the integration of multiomic and clinical data in patients with solid tumours.

Cancer accounts for over 25% of deaths in Poland.

Medicine needs more effective methods for early diagnosis and for predicting the course of disease. Traditional approaches are proving insufficient, and the future belongs to precision medicine—one that integrates advanced molecular techniques with multidimensional clinical data.

PowerOMICS Project

The main objective of the project is to develop and validate diagnostic–prognostic models based on the integration of multi-omic and clinical data in patients with solid tumors.

The PowerOMICS project is funded by the Medical Research Agency (ABM) from the National Recovery and Resilience Plan funds – project number: KPOD.07.07-IW.07-0217/24.

The integration will involve datasets originating from different omics layers, including:

Germline analysis (exome – WES)

Somatic analysis (exome – WES)

Analysis of the expression of all genes in the tumor and in whole blood (transcriptome – RNA-Seq)

DNA methylation analysis in the tumor (methylome – RRBS)

Analysis of the expression of all miRNAs in the tumor (microtranscriptome – small RNA-Seq)

Analysis of a miRNA panel in plasma (liquid biopsy using nCounter NanoString technology)

For this purpose, next-generation sequencing (NGS) of biological material from tumor samples will be used:

Non-small cell lung cancer (NSCLC)

High-grade serous ovarian carcinoma (HGSOC)

Colorectal cancer

Glioma

Specific objectives

Creation of an integrated multi-omic database of oncology patients

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Supplementing the existing collection with approximately 2,600 new sets of multi-omic sequencing data, including germline and somatic exomes (WES), tumor and blood transcriptomes (RNA-Seq), tumor and liquid biopsy microtranscriptomes (miRNA: small RNA-Seq and nCounter), and tumor methylomes (RRBS). Combined with archival data (approximately 3,400 sets), this will create a database of over 6,000 multi-omic profiles.

Generation of standardized multi-omic datasets for modeling using machine learning and AI methods

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Preparation of complete, processed sequencing data through quality control, filtering, and standardization of bioinformatic pipelines and data formats according to SOPs, enabling their use in advanced predictive models.

Integration of multi-omic and clinical data to identify candidate sets of molecular biomarkers

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Integration of multiple omics layers (somatic and germline WES, tumor and blood RNA-Seq, tumor small RNA-Seq, tumor RRBS, and miRNA nCounter – liquid biopsy) with clinical data, followed by trans-omic analyses to identify candidate biomarkers for carcinogenesis processes and disease progression prediction.

Identification of biomarkers through feature selection and statistical modeling

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Identification of key molecular features using dimensionality reduction methods, statistical selection, and machine learning algorithms, combined with expert knowledge, to pinpoint biomarkers with the highest diagnostic and prognostic potential.

Design and evaluation of the effectiveness of diagnostic–prognostic models based on multi-omic data

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Development of models integrating multi-omic and clinical data, along with their validation for predictive performance and clinical utility. Examples of planned evaluations include: a non-invasive molecular diagnostic test based on a blood sample to detect an ongoing cancer of a specific type or stage, and a prognostic test predicting a high risk of early death following tumor resection surgery.

Validation of laboratory tests using the qPCR method

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Conducting qPCR analyses for selected biomarkers to confirm their clinical utility, validating models using qPCR data, and preparing prototype tests suitable for implementation in routine diagnostics.

The project will be carried out through four main tasks:

1

Creation of a comprehensive multi-omic database of oncology patients.

2

Development and validation of diagnostic and prognostic models.

3

Preparation of tests based on validated statistical models.

4

Clinical validation of tests using qPCR.

We work with: