Vladimir Semenyuk

Automated Identification of Germline de novo Mutations in Family Trios: A Consensus-Based Informatic Approach

This paper presents an informatic method to identify germline de novo mutations in family trios using consensus across variant callers, achieving high precision and recall.

precisionFDA Truth Challenge V2: Calling variants from short- and long-reads in difficult-to-map regions

The paper evaluates variant calling in difficult genomic regions using short- and long-read sequencing, showing improved performance with new methods and multi-technology approaches.

Population-specific genome graphs improve high-throughput sequencing data analysis: A case study on the Pan-African genome

This study develops population-specific genome graphs to improve sequencing data analysis, showing reduced mapping errors and better variant calling in African ancestry samples.

Fast and Accurate Genomic Analyses using Genome Graphs

This paper introduces a graph genome reference that improves read alignment and variant calling accuracy compared to traditional haplotype-based methods.