Gilad D. Evrony

This study examines somatic mutation patterns in two cerebellar neuron types, finding similar substitution mutation rates but distinct insertion-deletion patterns influenced by transcription.

This study benchmarks six duplex sequencing technologies to evaluate their performance in detecting somatic mutations across different genomic contexts and tissue types.

This paper introduces ppmSeq, a sequencing technology that improves accuracy and efficiency in detecting SNVs by sequencing both DNA strands, showing superior performance in clinical applications like ctDNA detection.

This paper develops Ultra-Rapid droplet digital PCR (UR-ddPCR) for rapid intraoperative tumor mutation detection and quantification, demonstrating its feasibility in 13 glioma cases.

The paper develops a method and tool for high-fidelity, large-scale microsatellite profiling, reducing stutter artifacts and enabling cost-effective analysis of over 150,000 microsatellites per sample.

The paper uses pangenome graphs to improve detection of rare structural variants in a rare disease cohort, identifying novel diagnostic variants.

The paper uses HiFi sequencing to identify hypermethylation outliers in a rare disease cohort, finding allele-specific loss of regulatory elements linked to disease.

This paper develops a single-molecule long-read sequencing method to detect single-strand DNA mismatches and damage, revealing their relationship to double-strand mutations and providing insights into mutation mechanisms in cancer and aging.