WP4 - Identification of novel mutations and molecular profiles by exome and/or transcriptome NGS

The main objectives of WP4 are aimed at performing whole exome sequencing to discover yet unidentified mutations in BCR-ABL1-negative myeloproliferative neoplasms (MPN), AML, CLL and ALL, including BCR-ABL1-positive ALL cases to identify crucial markers for diagnosis, risk-stratification and potentially novel target therapies, as well as at integrating exome sequencing findings with whole trancriptome data in selected subsets of patients in order to detect expressed transcripts, alternative splicing events, mRNA structural/sequence variants and mRNA fusion transcripts.

Morevoer, WP4 is also aimed at linking NGS findings to clinical and treatment response data to stratify leukemia patients.