Sowmi Utiramerur

Accurate Reconstruction of Adaptive Immune Receptor Repertoires from FACS-partitioned B and T Cell Subsets

The paper develops computational methods to accurately reconstruct adaptive immune receptor repertoires from partitioned B and T cell subsets, showing improved accuracy compared to pooling sub-repertoires.

Systematic benchmarking of multi-modal approaches for tumor-naive ctDNA detection and quantification

This study benchmarks tumor-naive ctDNA detection and quantification methods using WGS and methylation data from cancer patients, identifying performance trade-offs and optimal integration strategies.

HuBIE: The Human Blood Immunome Encyclopedia Of TCRs and BCRs in Bloodstream Infections and Cancer

HuBIE provides a large-scale immune-repertoire dataset from 1,941 participants, revealing ethnic and age-related differences in TCR and BCR diversity and linking immunological diversity to survival in elderly patients.

immunoPETE: A DNA-based integrated B-cell and T-cell receptor profiling platform

The paper introduces immunoPETE, a DNA-based platform for profiling B and T cell receptors, and demonstrates its performance in immune repertoire analysis and clinical applications.

Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays.

The paper benchmarks germline variant calling pipelines in clinical assays using cloud-based workflows and GIAB reference samples to evaluate performance across genomic regions and variant types.

Identification of rare-disease genes in diverse undiagnosed cases using whole blood transcriptome sequencing and large control cohorts

This study evaluates the use of whole blood transcriptome sequencing for diagnosing rare diseases, finding an 8.5% diagnostic rate across 56 undiagnosed cases.

Long-read whole genome sequencing identifies causal structural variation in a Mendelian disease

The paper uses long-read whole genome sequencing to identify a pathogenic structural variant in a patient with Carney complex, demonstrating the potential of LRS in diagnosing Mendelian diseases.