diff --git a/README.md b/README.md index ba94042..3febbdb 100644 --- a/README.md +++ b/README.md @@ -4,23 +4,22 @@ 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 -medRxiv 2023.12.13.23299893 -URL: [https://doi.org/10.1101/2023.12.13.23299893](https://doi.org/10.1101/2023.12.13.23299893) + *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/10.1101/2023.12.13.23299893](https://doi.org/10.1101/2023.12.13.23299893) 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](https://doi.org/10.1038/s41467-022-31878-0) + *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](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 + *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](https://www.nature.com/articles/s41586-021-03771-1) ## Content