Melanie Kirsche

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 evaluates sequencing and assembly methods to create high-quality diploid human genome assemblies, finding that long reads and haplotype sorting improve accuracy and completeness.

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

A gapless 3.055 billion bp human genome from HiFi and ultra-long nanopore reads resolves all centromeric arrays and acrocentric p-arms, adding 182 Mbp of new sequence.

The T2T-CHM13 reference genome improves read mapping and variant calling across diverse samples, reducing false positives and enabling novel variant discovery.

Sapling improves sequence alignment speed by using a learned data model to enhance suffix array queries, outperforming existing methods on various genomes.

The paper develops a diploid assembly-based benchmark for variants in the MHC region using HG002 data, identifying 21496 small variants with high concordance to clinical HLA types.

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

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