Michael Schatz

Structural variation in repeat elements is widespread in normal human tissues and in tumorigenesis

The paper identifies widespread mosaic structural variants in normal human tissues and tumors, with repeat-mediated variants impacting functional elements and enabling noninvasive tumor monitoring through cell-free DNA.

Benchmarking challenging small variants with linked and long reads

This paper expands genome benchmarking to include difficult-to-map regions using linked and long reads, identifying more false negatives in variant calling.

REASSESSING THE REVOLUTIONS RESOLUTIONS

The paper identifies a fundamental statistical error in cryo-EM resolution metrics and shows how it affects published resolution values.

Oxford Nanopore Sequencing, Hybrid Error Correction, and de novo Assembly of a Eukaryotic Genome

The paper develops a hybrid error correction method for Oxford Nanopore reads and produces a highly contiguous and accurate de novo assembly of the S. cerevisiae genome.

Interactive analysis and quality assessment of single-cell copy-number variations

The paper introduces Ginkgo, a web platform for analyzing and assessing single-cell copy-number variations, and validates it by reproducing results from five studies.

The next 20 years of genome research

This paper discusses the future of genome research over the next 20 years, emphasizing the need for scalable computational methods and interdisciplinary training to handle the growth of genomic data.

Metassembler: Merging and optimizing de novo genome assemblies

The paper introduces a metassembler algorithm that improves genome assembly quality by merging multiple assemblies and applies it to four genomes, showing consistent improvements in contiguity and quality.

Error correction and assembly complexity of single molecule sequencing reads.

This paper evaluates the impact of long-read sequencing on genome assembly across multiple species and introduces a new error correction algorithm and predictive model.

SplitMEM: Graphical pan-genome analysis with suffix skips

SplitMEM constructs compressed de Bruijn graphs for pan-genomes efficiently, revealing core genome properties in Bacillus anthracis and Escherichia coli strains.