Elad Ziv

This study analyzes breast cancer GWAS across multiple ancestries, finding similar heritability and genetic correlations, and identifies shared regulatory and cellular contexts.

The paper analyzes expression and splicing quantitative trait loci (e/sQTL) across multiple tissues in the TOPMed dataset and finds that secondary e/sQTL signals are still discoverable, with many GWAS signals colocalizing with these e/sQTL.

The paper analyzes somatic mutations and transcriptional profiles in breast tumors from 748 Hispanic/Latina women, finding differences in tumor immune microenvironment ecotypes linked to ancestry and APOBEC3A/B copy-number deletions.

The paper updates the COSMIC database and identifies SBS39 as a new homologous recombination deficiency signature.

This paper introduces PRIME, a high-throughput prime editing screen that identifies functional DNA variants in the human genome with base-pair resolution.

The paper validates novel telomere length regulation genes POP5 and KBTBD6 identified through trans-ancestry GWAS using functional experiments in blood cells.

This study identifies 22 genetic variant-phenotype associations linked to multiple primary cancers using whole-exome sequencing in two large multi-ancestry cohorts.

The paper analyzes gene expression in African American and Latino children to show ancestry-specific genetic architecture and highlights the benefits of diverse genomic studies.

This study evaluates polygenic risk scores across 17 cancer types in two large cohorts, identifying cross-cancer associations and non-cancer phenotype links.

The paper shows that increased Amerindigenous ancestry in Mexican Americans over time has altered the genetic architecture of traits like height and polygenic risk scores.

This study integrates polygenic risk scores with modifiable risk factors and family history to improve cancer risk prediction across 16 cancers using UK Biobank data.

This study identifies genetic loci and amino acid residues associated with immune response to viral infections using serological data from the UK Biobank.

This study examines how cancer polygenic risk scores correlate with somatic alterations in tumors from The Cancer Genome Atlas, revealing associations with specific molecular subtypes and driver events.

The paper conducts pan-cancer GWAS in two cohorts, identifying novel risk variants and shared genetic basis across 18 cancer types.

The paper evaluates the ACMG PP3 and BP4 rules using Align-GVGD on ATM and CHEK2 data, finding that severe Align-GVGD grades exceed a moderate pathogenic threshold in a Bayesian framework.

The paper identifies three novel common breast cancer risk variants at the 6q25 locus in Latinas and replicates their association in diverse populations.

A novel method defines ethnicity-specific reference intervals for lab tests using EHR data, showing better prognostic value than existing intervals for serum creatinine and hemoglobin A1C.

The paper analyzes genome-wide SNP data to assess Sephardic ancestry in Iberian Peninsula populations and surrounding regions, finding evidence of recent Sephardic admixture and challenges in ancestry assignment.

This study identifies pharmacogenetic variants associated with albuterol bronchodilator response in minority children with asthma using whole genome sequencing.