Speaker: Carlo Cipriani
May 5th, 2026 | 2:15 pm
DEIB, PT2 Meeting Room (Bld. 20A)
For further information please contact: Silvia Cascianelli | silvia.cascianelli@polimi.it
Abstract
Tuesday, May 5th, 2026 at 2:15 pm a new appointment of Data Science Seminars: Bioinformatics focus will take place in DEIB PT2 Meeting Room (Building 20A) organized by the Data Science for Bioinformatics group.The seminar will be held by Carlo Cipriani, PHD Student in Information Technology, on the following subject: "Tracing disease dynamics through cell-free DNA tissue-of-origin analysis".
Non-invasive biomarkers constitute an emerging approach for monitoring human disease and evaluating treatment response. Among these, cell-free DNA (cfDNA) is especially promising, as it serves as a reservoir of genetic information released by dying cells across the body. As a result, cfDNA can provide a systemic snapshot of the patient’s physiological and pathological state.
In clinical practice, cfDNA is already used to track tumor relapse through known cancer-associated mutations and to monitor organ rejection in transplantation. However, many diseases or treatment-related complications are not defined by specific genetic variants, making mutation-based approaches insufficient. In these contexts, cfDNA tissue of origin deconvolution offers a complementary strategy by estimating the tissue and cell-type contributions to the circulating cfDNA pool.
In this talk, we will explore how cfDNA deconvolution can be used to study disease dynamics and patient trajectories over time, both before and after treatment. In the first part, we will discuss currently available deconvolution methods and how their performance can be improved for low-depth sequencing samples. In the second part, we will focus on how deconvolution results can provide biological insights into cancer-bearing patients, helping to reveal tissue damage, tumor-associated signals, and treatment-related changes at the whole-organism level.