Len Trigg

Reproducible integration of multiple sequencing datasets to form high-confidence SNP, indel, and reference calls for five human genome reference materials

The paper develops a reproducible pipeline to integrate sequencing datasets for high-confidence SNP, indel, and reference calls in five human genomes, showing improved variant detection compared to prior methods.

Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes

The paper develops standardized tools and best practices for benchmarking germline small variant calls in human genomes using truth sets and performance metrics.

Comparing Variant Call Files for Performance Benchmarking of Next-Generation Sequencing Variant Calling Pipelines

The paper develops a novel algorithm to accurately compare variant call files by addressing representation discrepancies in VCF data, enabling reliable performance benchmarking of variant calling pipelines.

Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data

This paper introduces a Bayesian network framework for joint variant and de novo mutation identification in pedigrees, showing improved accuracy over singleton and population-based methods.