Nicole Soranzo

The paper maps RNA-DNA interactions in 16 human cell types, showing cell-type-specific and dynamic networks that correlate with gene regulation and disease traits.

This study expands the human plasma proteome analysis using an enhanced SomaScan platform, identifying new genetic associations and disease mechanisms beyond the classical secretome.

This study presents a pan-pangenome of humans, chimpanzees, and bonobos, revealing structural variation, selection patterns, and adaptations related to immunity and malaria resistance.

COSIGT improves genotyping accuracy at low sequencing depths by matching coverage patterns to pangenome haplotypes using cosine similarity, enabling population-scale analysis of complex variation.

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.

This study identifies genetic determinants of endothelial cell molecular traits and their overlap with disease GWAS loci, revealing shared and unique mechanisms in non-communicable diseases.

SAFE-LD estimates linkage disequilibrium from GWAS summary statistics using pseudo-genotypes that preserve in-sample LD while protecting privacy.

This study identifies genetic determinants of blood gene expression and splicing, linking them to molecular phenotypes and health outcomes through QTL analysis and colocalization.

This paper introduces PGGB, a pipeline for building pangenome graphs that includes all variation without bias, enabling variation detection, conservation measurement, recombination event detection, and phylogenetic inference.

This study examines amylase structural haplotypes in humans, finding increased copy numbers in agricultural populations and evidence of recent selection over the last 12,000 years.

The paper identifies misexpression of inactive genes in whole blood and links it to nearby rare structural variants using RNA and genome sequencing data.

The paper develops genetic scores for 17,227 molecular traits using multi-omic data from INTERVAL and validates them across ancestries, demonstrating their utility in pathway analysis and disease association discovery.

This study identifies 557 new gene-trait associations for hematological traits using transcriptome-wide association analysis in UK Biobank data.

The paper uses polygenic scores to identify plasma proteins causally linked to cardiometabolic diseases and finds some are targets for existing therapies.

The paper profiles gene expression in human microglia from 141 patients, identifies population shifts in acute brain injury, maps eQTLs, and fine-maps Alzheimer's risk variants using hIPSC-derived macrophages.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

The paper shows that using personalized and graph genomes improves epigenomic analysis by recovering new peaks associated with genetic variants.

The paper identifies novel gene-trait associations and pathways involving rare variants in metabolic biomarkers linked to cardiovascular disease risk.

This study compares machine learning and univariate methods for constructing polygenic scores for 26 blood cell traits using UK Biobank and INTERVAL data, showing improved performance with learning methods.

This study performs GWAS on blood cell flow-cytometry phenotypes, identifies variant-trait associations, and links them to cellular structures and disease mechanisms.

This study uses regulatory QTLs from immune cells to fine-map causal variants for twelve immune-mediated diseases, finding smaller credible sets and higher posterior probabilities compared to traditional methods.

The paper identifies immune disease variants affecting Treg gene expression and highlights potential drug targets by linking GWAS signals with Treg QTLs.

The paper identifies how variation in PU.1 binding and chromatin looping at neutrophil enhancers influences autoimmune disease susceptibility and cell count differences.

The paper identifies 1,927 genetic associations with 1,478 plasma proteins using 10.6 million DNA variants and 3,301 individuals, revealing new drug targets and safety concerns.

This study identifies novel rare genetic variants associated with heritable pulmonary arterial hypertension through whole genome sequencing of cases and controls.

This study compares the epigenomes of neutrophils and monocytes to identify regulatory elements and chromatin states, revealing differences in enhancer activity and DNA methylation.

The paper measures and compares transcriptional and epigenetic variability across immune cell types and finds neutrophils exhibit higher variability linked to immune pathways and environmental exposure.

The paper introduces a method to assess enrichment of GWAS loci in regulatory regions, identifying novel biological insights across 27 traits.

The paper analyzes whole-genome sequencing data from Italian founder populations to determine the cause of purging of deleterious variants, concluding that genetic drift and founder effect, not consanguinity, are responsible.

MultiMeta performs meta-analysis of multi-phenotype GWAS by combining results from different cohorts using an inverse-variance based method in an n-dimensional setting.