Mrinal M. Patnaik

The paper functionally characterizes DDX41 variants, showing some non-truncating germline variants are susceptible to dominant-negative effects by the somatic hotspot mutation p.R525H.

This study shows that mutant ASXL1 proteins disrupt heterochromatin integrity in clonal hematopoiesis and CMML by reducing H3K9me2/3 and H2AK119Ub, leading to increased transposable element expression.

The paper identifies CXCL8 secreted by immature granulocytes as a factor inhibiting wildtype hematopoiesis in CMML, suggesting CXCL8 blockade could slow disease progression.

UNISOM improves CHIP detection from low-coverage sequencing data by combining variant calling with machine learning classification, identifying low-VAF mutations with high sensitivity.

This study uses single cell multiomic analyses to show DNMT3A mutations in clonal hematopoiesis worsen inflammatory outcomes in COVID-19 by increasing IL32 expression and chromatin accessibility.