boostDM clonal hematopoiesis 2024
BoostDM-CH is a method to score all possible single base substitutions in clonal hematopoiesis (CH) driver genes for their potential to drive CH. The method's rationale and analysis results thereof are described in this study:
Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis
Santiago Demajo, Joan Enric Ramis-Zaldivar, Ferran Muiños, Miguel L Grau, Maria Andrianova, Nuria Lopez-Bigas, Abel Gonzalez-Perez
URL: https://doi.org/10.1158/2159-8290.CD-23-1416
The method is based on two previous projects: IntOGen-CH and boostDM
IntOGen-CH pipeline provides a compendium of CH driver genes and mutational features upon using the IntOGen pipeline with a catalog of high VAF somatic mutations called in normal blood from tumor samples by reverse variant calling, which has been described in this study:
Discovering the drivers of clonal hematopoiesis
Oriol Pich, Iker Reyes-Salazar, Abel Gonzalez-Perez, Nuria Lopez-Bigas
URL: https://doi.org/10.1038/s41467-022-31878-0
boostDM is a methodology to annotate mutations in cancer genes for their potential to drive tumorigenesis, which has been described in another study:
In silico saturation mutagenesis of cancer genes
Ferran Muiños, Francisco Martinez-Jimenez, Oriol Pich, Abel Gonzalez-Perez, Nuria Lopez-Bigas
URL: https://www.nature.com/articles/s41586-021-03771-1