Saurabh Baheti

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

Large- Scale Deep Proteomic Analysis in Alzheimer's Disease Brain Regions Across Race and Ethnicity

The paper performs large-scale proteomic analysis of Alzheimer's disease brain regions across different racial and ethnic groups, identifying AD-related protein changes and APOE4 concordance with genotype.

Unified somatic calling and machine learning-based classification enhance the discovery of clonal hematopoiesis of indeterminate potential

UNISOM improves CHIP detection from low-coverage sequencing data by combining variant calling with machine learning classification, identifying low-VAF mutations with high sensitivity.

Computational performance and accuracy of Sentieon DNASeq variant calling workflow

This study compares the accuracy and performance of Sentieon DNASeq and GATK for single-sample variant calling, finding they are nearly identical in accuracy with Sentieon being faster and more scalable.

Performance benchmarking of GATK3.8 and GATK4

This study benchmarks GATK3.8 and GATK4 to evaluate performance improvements and cost trade-offs in genomic variant calling.