Bindu Swapna Madala

Single-cell eQTL mapping in 5.4 million PBMCs from 1,925 individuals with matched WGS finds common-variant eQTLs for 83% and rare-variant signals for 47% of 21,404 genes.

The paper identifies immune cell type-specific gene expression regulated by tandem repeats using multi-omics data from large cohorts.

This study evaluates reproducibility and accuracy of cancer mutation detection using whole-genome and whole-exome sequencing across multiple sequencing centers and bioinformatics pipelines.

This paper introduces chimeric RNA standards for SARS-CoV-2 testing to simultaneously validate positive and negative controls in diagnostic assays.

The paper demonstrates that chiral DNA sequence pairs perform equivalently in clinical genomics techniques and proposes them as commutable reference standards to improve mutation detection in tumor samples.