Joris Robert Vermeesch

The paper analyzes cfDNA methylome and fragmentome profiles from healthy individuals to identify cell-type and demographic signatures influencing cfDNA characteristics.

A randomized trial compares genome sequencing to standard of care in diagnosing developmental disorders, finding higher diagnostic yield with genome sequencing.

NOVOLoci improves genome assembly using Oxford Nanopore reads, achieving high-quality phased assemblies for complex and non-model organisms.

The paper uses single-cell RNA-sequencing to analyze cervical and placental tissues, identifying a novel trophoblast subtype and revealing similarities between maternal epithelial cells and placental trophoblasts.

The paper identifies mechanisms of whole-genome abnormal blastomere formation and their developmental outcomes in early embryos.

This study demonstrates that long-read whole-genome sequencing can accurately haplotype and detect aneuploidies in single cells, offering an alternative to current preimplantation genetic testing methods.

This study uses long-read sequencing and optical genome mapping to fully characterize unresolved structural variants, achieving single-basepair resolution and improving diagnostic yield.

MetDecode uses methylation patterns to estimate tumor proportion and identify tissue origin in cell-free DNA samples from cancer patients.

This study demonstrates that nanopore sequencing can detect episignatures in developmental disorders, matching microarray results and identifying pathogenic variants.

This paper introduces an optimal transport-based domain adaptation method to correct technical biases in cfDNA sequencing data, improving cancer detection and enabling cohort integration.

The paper investigates the mechanisms behind the high incidence of 22q11.2 deletion syndrome by analyzing recombination events and paralogous structures in LCR22 regions.

This study uses single-cell genome-and-transcriptome sequencing to analyze the impact of chromosome instability on cellular states and development in human preimplantation embryos.

The paper identifies chromatin regulatory genes as genetic modifiers of conotruncal heart defects in 22q11.2 deletion syndrome and links them to sporadic congenital heart disease.

The paper develops a method to detect and type cancer using cfDNA sequencing data, achieving 81.62% accuracy in distinguishing malignant from control samples.

WiNGS enables federated analysis of omics data across a consortium without centralized storage, supporting variant interpretation for rare disease diagnosis.

This study evaluates five NIPT aneuploidy detection tools using clinically validated samples, finding that lower sequencing coverage increases false-negative and false-positive rates.

The paper benchmarks structural variation detection using long reads through a simulated model, finding that combining multiple callers improves recall and precision.

The paper investigates the inter- and intra-species variability of LCR22s in non-human primates and finds that LCR22 expansions are unique to humans.

This study shows that MSH2 knock-down stabilizes CTG repeats and reduces upstream CpG methylation in DM1 hESCs, suggesting a link between DNA repair and epigenetic changes in DM1.

The paper introduces CTLR-Seq, a method to resolve complex genomic regions with high accuracy, and applies it to study CNVs associated with schizophrenia and autism.

The paper characterizes the structural variability of 22q11 low copy repeats (LCRs) using optical and Bionano mapping, revealing high haplotype diversity and population-specific differences.

This study shows that RLIM deficiency in mice causes respiratory distress and neonatal death due to impaired BMP signaling in lung development.

The paper presents an updated horse reference genome, EquCab3, which improves contiguity and composition compared to the previous version, EquCab2.