Tariq Ahmad

This study identifies 619 IBD risk signals, resolves 81 high-confidence variants, and prioritizes 664 candidate effector genes using GWAS, eQTL, and exome sequencing.

This study uses exome and genome sequencing to identify 68 genes directly associated with inflammatory bowel disease, providing clearer genetic insights and therapeutic targets.

The paper analyzes over 800,000 human genomes to assess penetrance of clinically relevant variants, finding that 95% of pLoF variants in severe diseases have explanations for lack of disease manifestation.

Rare-variant depletion in 1kb windows of 76,156 gnomAD genomes, versus feature-adjusted mutation expectations, marks regulatory elements and outperforms seven alternative scores at flagging functional non-coding variants.

The paper develops a method to infer compound heterozygosity from exome sequencing data, achieving high accuracy in phasing rare variants for recessive disease diagnosis.

The paper identifies ten new genes with coding variants linked to Crohn's disease risk using sequencing data from over 30,000 patients and 80,000 controls.

The paper evaluates potential drug targets using loss-of-function genetic variants from gnomAD, highlighting the importance of deep curation and targeted recall studies for drug discovery.

From 125,748 exomes and 15,708 genomes, 443,769 high-confidence predicted loss-of-function variants yield LOEUF, a continuous gene intolerance score tracking mouse lethality, cell essentiality, and disease associations.

The paper develops an expression-based annotation metric to improve rare variant interpretation by filtering false-positive loss-of-function variants and identifying pathogenic variants in highly expressed exons.

Short-read genome sequencing of 14,891 diverse genomes yields 433,371 structural variants (SVs) for gnomAD; loss-constrained genes also resist duplication, and clinical SV carrier rates are benchmarked.

The paper analyzes loss-of-function variants in LRRK2 across large genomic datasets to assess the safety of partial LRRK2 inhibition as a Parkinson's disease therapy.

The paper systematically studies uORF variants in 15,708 genomes, showing they are under strong negative selection and contribute to disease.

The paper analyzes multi-nucleotide variants (MNVs) in 125,748 exomes and 15,708 genomes, identifying their distribution, mutational origins, and functional implications.

This study identifies HLA-DQA1*05 as a genetic risk factor for anti-drug antibody development in Crohn's disease patients treated with anti-TNF therapies.

The paper identifies 1,103 deleterious NUDT15 variants using functional assays, improving pharmacogenetics-guided thiopurine treatment by accurately predicting toxicity risk alleles.

This paper develops and validates a 17-gene qPCR classifier in whole blood that stratifies IBD patients into prognostic subgroups without requiring cell separation.

This study uses whole genome sequencing to explore the genetic architecture of inflammatory bowel diseases, identifying a risk variant in ADCY7 for ulcerative colitis but finding limited contribution of low-frequency variants to heritability.

The paper identifies a protein truncating variant in RNF186 that protects against ulcerative colitis by reducing disease risk.

This study identifies 26 new genetic loci associated with inflammatory bowel disease, including integrin genes linked to immune activation and disease risk.