Jakob Heinz

HipHap improves haplotype assignment and confidence scoring for diploid genomes by aligning reads to each haplotype separately and introducing a quality score.

This paper introduces a method for improving long-read somatic structural variant calling by integrating pangenome and de novo personal genome assembly, reducing false positives while maintaining sensitivity.

The paper identifies foldback artifacts in long-read sequencing data and introduces Breakinator, a tool to detect these artifacts and chimeric reads across different sequencing platforms.

LiftOn improves genome annotation by integrating DNA and protein alignments, enabling accurate annotation transfer between closely and distantly related species.

The paper applies a novel metagenomics analysis to SCTLD lesions and healthy tissues to identify disease-associated microbiome members.

CHESS 3 improves upon previous versions by using better algorithms and filtering to create a more accurate catalog of human genes and transcripts.

The paper presents the complete sequence of a human Y chromosome, correcting errors in the GRCh38 reference and adding over 30 million base pairs.

The paper presents a new reference genome, PR1, from a Puerto Rican individual, highlighting its completeness and annotations compared to existing genomes.