Vijay G. Sankaran

The paper identifies MHC II-expressing bone marrow megakaryocytes as noncanonical antigen-presenting cells capable of activating CD4+ T cells and modulating immune responses.

This study uses DNA methylation-based epigenome editing to durably and reversibly silence genes in human hematopoietic stem cells, demonstrating its application in modulating platelet function.

This study identifies a BACH2-NRF2 axis regulating fetal hemoglobin activation through genetic and functional analyses in a large multi-ancestry cohort.

This study shows that low-heteroplasmy mitochondrial DNA mutations provide reliable clonal information, improving clonal reconstruction in human cells.

The paper uses single-cell multiomic analysis to identify genetic variants and regulatory disruptions linked to childhood B-cell acute lymphoblastic leukemia.

The paper uses CRISPR and single-cell transcriptomics to study how inherited variants in B-cell development contribute to childhood leukemia.

The paper identifies 'matchmaker' cis-regulatory elements in erythropoiesis that strengthen loops between neighboring elements and are linked to gene expression and cohesin loading.

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

This study maps genetic risk mechanisms for immune-mediated diseases by integrating single-cell multi-omic data with fine-mapped variants from genome-wide association studies.

The paper identifies RAG-mediated structural variants as a risk factor for relapse in pediatric B-ALL and T-ALL, independent of MRD status.

The paper identifies a genetic variant associated with reduced blood counts and cancer protection, showing it disrupts a lncRNA that regulates HOXA gene expression in hematopoietic stem cells.

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

MitoDrift models mitochondrial inheritance to enable high-precision lineage tracing in human tissues, revealing clonal dynamics and linking them to transcriptional and epigenetic programs.

The paper combines natural and engineered genetic variation to identify 22 non-coding variants affecting haematological traits and shows how a CUX1 variant impacts megakaryopoiesis.

The paper identifies an age-related expansion of an inflammatory and quiescent HSC subpopulation using integrated single-cell data.

The paper identifies a genetic variant that protects against clonal hematopoiesis by regulating RNA-binding protein MSI2 in hematopoietic stem cells.

The paper identifies plasma proteins associated with clonal hematopoiesis and links them to cardiovascular disease through proteomic and genetic analyses.

This study identifies MECOM's role in blocking differentiation via CEBPA repression, showing that targeting this regulatory element can promote differentiation and reduce leukemia burden in AMLs.

The paper shows that IRES/Cap translation increases during hematopoietic and epithelial differentiation under normal conditions, correlating with lower stemness.

This paper introduces TDAC-seq, a method combining CRISPR perturbations with chromatin accessibility profiling to study cis-regulatory elements at single-nucleotide resolution.

This study identifies polygenic modifiers of expressivity in telomere biology disorders by showing how common and rare genetic variants interact to influence clinical variability.

The paper identifies mitochondrial DNA variants in undiagnosed rare disease families using exome and genome sequencing data, leading to diagnoses in 0.4% of cases.

The paper identifies TF-sensitive chromatin regions as highly enriched for heritability of blood cell phenotypes, using a novel single-cell multi-omics approach.

This study introduces STAG-seq, a method combining transcriptomics and genotyping to functionally analyze genetic variants in immune cells, revealing their impact on gene expression and disease mechanisms.

This study shows that inducing a torpor-like state in mice slows blood epigenetic aging and improves healthspan by reducing core body temperature.

This study identifies two distinct macrophage differentiation pathways in humans, showing how developmental origin influences macrophage function and identifies a method to expand tissue-resident macrophages.

The paper identifies genetic and phenotypic correlates of mosaic loss of chromosome Y in blood using whole genome sequencing data from the TOPMed program.

This paper introduces ReDeeM, a framework for detecting mtDNA mutations in single cells to improve lineage tracing, showing improved accuracy and reliability over existing methods.

The paper develops a method to quantify somatic mutation burden in whole-genome sequencing data without paired-tissue samples and identifies genetic and phenotypic correlates of clonal hematopoiesis without known driver mutations.

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.