Yash Patel

This paper presents near-complete, haplotype-resolved assemblies of a pancreatic cancer genome and normal tissue, identifying extensive somatic variants and epigenetic changes in previously excluded regions.

The paper analyzes genetic and health record data from a diverse population to uncover gene-phenotype associations and assess polygenic score performance across ancestries.

Metapipeline-DNA automates comprehensive analysis of DNA sequencing data from raw reads to visualization, supporting germline and somatic genomic features.

moPepGen identifies non-canonical peptides from genetic and transcriptomic data across species and technologies by generating them in linear time.

The paper develops a benchmark for detecting low-frequency mosaic variants in the HG002 reference material using high-coverage sequencing data and validates its utility across multiple technologies.

The paper quantifies the impact of genome build differences on variant calling and introduces StableLift, an algorithm to predict cross-build variant stability.

This study evaluates how different random seeds affect subclonal reconstruction algorithms in cancer genomics, finding significant variability in subclone estimates across seeds.