Reading the « reads », The power of RNAseq at single nucleotide resolution in clinical practice and fundamental research

Stéphane Pyronnet (INSERM)

05/10/2023 10:30 - 12:00
Emplacement: Aurigny Room

The diagnosis and/or prognosis of diseases often relies on DNA and/or RNA sequencing data. This is particularly the case in oncology, where the transformation of normal cells into cancerous ones is the result of DNA modifications found in transcribed RNAs (chromosomal translocations, mutations…) and of non-genetic events modifying RNA sequence only (promoter or alternative splicing…). Detecting and quantifying all these modifications in a patient remains a challenge in medicine. However, these processes must be reliable and rapid to ensure optimal patient care. Some patients may benefit from targeted therapies against these alterations. In our team, we are testing the possibility that Kmer analysis of sequencing data may be of clinical interest. The current performances of our new bioinformatics pipelines will be illustrated in acute myeloid leukemia, a blood cancer whose mutational load can be heavy and is highly heterogeneous from one patient to another. These approaches have also enabled us to discover new sequence alterations which we are characterizing from a functional point of view.