Ali G. Gharavi

This study identifies 36 genetic loci associated with recurrent UTIs and highlights PSCA as a key gene involved in urinary epithelial defense against bacteria.

The paper generates disease-specific genetic effect maps on the blood transcriptome for five glomerular diseases using whole genome and transcriptome sequencing data from the CureGN cohort.

This study finds that many critically ill children receive medications with established pharmacogenomic guidelines, but exome sequencing identifies actionable PGx variants that could improve treatment.

This study uses exome sequencing to identify genetic associations with interstitial cystitis/bladder pain syndrome, finding new links and extending known associations.

This study identifies independent associations between IPF risk and rare variants, the MUC5B SNP, and polygenic scores, showing that telomere-associated common variants improve disease prediction and explain genetic heterogeneity in IPF.

The paper identifies variants in PRPF8 and related genes associated with CAKUT, showing their role in splicing and ciliogenesis through functional experiments.

The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

This study evaluates exome sequencing in liver diseases, finding a 5.7% diagnostic rate for monogenic disorders after filtering and manual review.

The paper shows the APOL1 p.N264K variant reduces the risk of FSGS and kidney disease in individuals with G2 APOL1 risk alleles.

This study identifies 20 genome-wide significant loci associated with serum IgA levels and finds genetic correlations with various immune and metabolic traits.

This paper describes the establishment of a Kidney Genetics Clinic to improve access to genetic services for adults with kidney disease, reporting a 42.38% yield of clinically relevant genetic findings.

This paper develops a genome-wide polygenic score for chronic kidney disease that incorporates APOL1 risk genotypes and shows consistent performance across four major continental ancestries.

This study finds that children with critical illness and non-diagnostic whole exome sequencing may still carry risk variants in genes not previously associated with disease.

This study uses EHR data to identify gene-phenotype associations and develop phenotype risk scores for variant interpretation in hereditary cancer genes.

The paper evaluates the generalizability of breast cancer polygenic risk scores across three ancestral groups using the eMERGE dataset, finding good performance in LatinX but not African ancestry women.

Neptune delivers structured genomic data to EHR systems through customizable reports and variant reanalysis, supporting over 15,000 clinical reports.

The paper investigates the association of rare loss-of-function variants in type I IFN immunity genes with severe COVID-19 and finds no significant association.

Atlas-CNV identifies single-exon CNVs in targeted sequencing data with reduced false discovery rate using C-scores and ExonQC thresholds.

This study identifies 93 genetic loci associated with kidney function across four ancestry groups and highlights causal effects on kidney-related diseases.

This paper identifies two genetic loci associated with serum galactose-deficient IgA1 levels and shows their role in O-glycosylation regulation.