Stephen T. Sherry

Establishing reference samples for detection of somatic mutations and germline variants with NGS technologies

The paper establishes reference samples with high-coverage whole-genome sequencing to create truth sets for somatic mutation and germline variant detection using NGS technologies.

Achieving reproducibility and accuracy in cancer mutation detection with whole-genome and whole-exome sequencing

This study evaluates reproducibility and accuracy of cancer mutation detection using whole-genome and whole-exome sequencing across multiple sequencing centers and bioinformatics pipelines.

A robust benchmark for germline structural variant detection

Genome in a Bottle benchmark of 12745 sequence-resolved insertions and deletions of 50 bp or more, integrating 19 calling methods, scores false negatives and false positives alike.

High-coverage, long-read sequencing of Han Chinese trio reference samples.

The paper presents high-coverage long-read sequencing data from a Han Chinese trio for developing and evaluating long-read bioinformatics methods.

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.