Vivek Iyer

The paper introduces WxS-QC, a quality control pipeline for human WGS and WES data, and provides an open test dataset to evaluate QC methods.

The paper identifies molecular signatures of Crohn's disease using scRNA-seq data from terminal ileal biopsies, highlighting key cell types and pathways involved in disease pathogenesis.

This study identifies rare variants and digenic interactions associated with congenital heart disease using a large-scale exome case-control analysis.

This pilot study identifies British South Asians at high risk of cholestatic liver disease through genetic and phenotypic recall, finding 66.7% of participants had undetected liver disease.

The paper maps cell-type-specific eQTLs in IBD patients to identify effector genes and mechanisms linking genetic risk to disease.

This study uses single-cell RNA sequencing to analyze immune cell transcriptional profiles in mucosal and circulatory compartments of Crohn's disease patients, revealing tissue-specific inflammation signatures and identifying circulating T cells with mucosal-like features.

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 study estimates that ~6% of insulin-treated diabetic individuals with ambiguous features in British Pakistanis and Bangladeshis have T1D, highlighting the need for autoantibody and C-peptide testing.

The paper analyzes 3,313 genetically engineered mouse lines to identify gene essentiality as the main factor affecting Cas9-based genome editing success.

The paper analyzes POT1 variants in a melanoma case-control cohort, finding that pathogenic variants are a minor contributor to melanoma risk but should be screened in high-risk individuals.

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.

This paper introduces a minimized double guide RNA library for CRISPR/Cas9 screens, reducing scale by fivefold while maintaining performance.