Rachel M. Sherman

The paper introduces the EN-TEx resource, which provides personal epigenomes and variant-impact models across multiple tissues, revealing allele-specific loci and their associations with GWAS loci.

Jasmine improves SV comparison and analysis by refining SVs, reducing Mendelian discordance, and revealing high-confidence de novo SVs across diverse samples.

The paper identifies genetic variants in human rRNA genes across 2,504 individuals, showing non-random distribution and highlighting regions of potential evolutionary diversity.

This study uses long-read sequencing to identify structural variants in breast cancer genomes, showing high accuracy and sensitivity compared to short-read methods.

The paper assembles and annotates a population-specific Ashkenazi human reference genome, showing improved contiguity and completeness compared to GRCh38.

Paragraph is a graph-based structural variant genotyper for short-read data that outperforms existing methods in accuracy across diverse samples.