Mohammad Salma

This paper improves ATAC-seq peak calling by integrating whole-genome sequencing data to control for DNA dosage biases, enhancing peak accuracy and relevance to gene regulation.

This study shows that MECP2 inhibits cGAS signaling by exporting to the cytosol upon dsDNA detection, dampening inflammation and antiviral responses.

This study investigates VEXAS anemia, showing that UBA1 mutations affect erythroblast differentiation but not mature red cells, leading to a mosaic erythroblastopenia.

The paper investigates the functional impact of a GWAS-identified Myb enhancer in beta-thalassemia by generating a knock-out mouse model and analyzing its effects on erythropoiesis and clinical parameters.

Var I Decrypt is a web-based tool for analyzing whole-exome sequencing data, enabling variant prioritization and functional analysis in clinical settings.

ONTdeCIPHER is a nanopore sequencing pipeline for analyzing pathogen variants, providing tools for preprocessing, variant calling, and phylogenetic analysis of SARS-CoV-2 and other pathogens.