Raoul Timmermans

Integrative optical genome mapping and long-read sequencing resolve constitutional complex rearrangements at nucleotide resolution

The paper uses optical genome mapping and long-read sequencing to resolve complex rearrangements at nucleotide resolution, revealing additional complexity and enabling accurate genotype-phenotype correlations.

Clinical long-read genome sequencing for rare disease diagnostics

This study evaluates long-read genome sequencing in rare disease diagnostics, finding high concordance with standard-of-care tests and incremental diagnostic benefits.

HiFi sequencing accurately identifies clinically relevant variants in paralogous genes

This study shows that PacBio HiFi long-read sequencing with Paraphase variant caller detects all clinically relevant variants in paralogous regions, improving variant calling accuracy.

HiFi long-read genomes for difficult-to-detect clinically relevant variants

The paper demonstrates that HiFi long-read sequencing can detect 93% of clinically relevant variants challenging to identify with short-read sequencing, using 30x coverage and showing potential for cost-effective diagnostic implementation.

Pushing the limits of single molecule transcript sequencing to uncover the largest disease-associated transcript isoforms in the human neural retina

The paper uses long-read sequencing and cDNA capture to sequence large transcripts associated with Usher syndrome in the human neural retina, identifying novel isoforms and splicing events.