Valérie Schneider

FCS-GX, a hashed k-mer cross-species aligner with a 709 Gbp curated database, screens most genomes in 0.1-10 minutes and flagged 36.8 Gbp of contamination in GenBank.

The paper introduces a new visualization tool, CGV, for analyzing whole genome alignments across species, enabling exploration of structural differences and gene annotations.

The paper introduces Minigraph-Cactus, a pangenome pipeline that constructs pangenome graphs directly from whole-genome alignments, demonstrating improved performance in mapping and variant calling across human and Drosophila data.

The paper presents a draft human pangenome reference that improves variant discovery and structural variant detection compared to existing references.

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.

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.

This study compares somatic mutation detection accuracy using personalized genome assembly versus standard reference in cancer samples, showing improved results with personalized assemblies.

The paper presents a gapless, telomere-to-telomere assembly of the human X chromosome using ultra-long-read nanopore sequencing and complementary technologies.

The paper generates a new de novo genome assembly for C57BL/6J Eve, addressing genetic drift in the reference strain and improving genomic accuracy.