Joseph Vijai

SLC25A28 is a synthetic lethal vulnerability in nucleotide excision repair-deficient cancers

This study identifies SLC25A28 as a synthetic lethal target in NER-deficient cancers, showing its loss impairs cell viability and increases oxidative stress.

Integrated Clinicogenomic Risk Modeling for Metachronous Second Primary Cancers

The paper develops and validates a clinicogenomic risk model to predict second primary cancers in cancer survivors using genetic, clinical, and lifestyle factors.

Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia

The paper identifies ultra-rare exonic variants in an Ashkenazi Jewish founder population, implicating cadherins in schizophrenia through recurrent mutations and altered purifying selection.

Combining genome-wide studies of breast, prostate, ovarian and endometrial cancers maps cross-cancer susceptibility loci and identifies new genetic associations

This study combines genome-wide association data from four cancers to identify shared and novel genetic associations and pleiotropic effects.

Towards automation of germline variant curation in clinical cancer genetics

PathoMAN automates germline variant curation using ACMG guidelines, achieving high concordance with expert curation and proposing refinements for better ClinVar reporting.

Case-control analysis identifies shared properties of rare germline variation in cancer predisposing genes

The paper analyzes rare germline variation in cancer predisposing genes across cancer patients and controls to identify shared mutation properties and candidate susceptibility genes.

High-depth whole genome sequencing of a large population-specific reference panel: Enhancing sensitivity, accuracy, and imputation

The paper sequenced a population-specific reference panel at high depth to improve imputation accuracy and variant filtering in the Ashkenazi Jewish population.

Novel pedigree analysis implicates DNA repair and chromatin remodeling in Multiple Myeloma risk

This paper introduces a new pedigree analysis method to identify risk variants for complex diseases, applying it to Multiple Myeloma and finding two genes associated with DNA repair and chromatin remodeling.

Tissue-specific Enrichment of Lymphoma Risk Loci in Regulatory Elements

The paper identifies lymphoma risk SNPs enriched in regulatory elements using a multiscale approach and develops an algorithm to analyze GWAS results.