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Articles by Joris Robert
Longitudinal cell-free DNA methylome and fragmentome profiles in health uncover signatures of cell type and demographic origin
Sirajee AS, Kabiraj D, De S. Cell-free nucleic acid fragmentomics: a non-invasive window into cellular epigenomes. Transl Oncol. 2024;49:102085. https://doi.org/10.1016/j.tranon.2024.102085. Google Scholar Han DSC, Ni M, Chan RWY, Wong DKL, Hiraki LT, Volpi S, et al. Nuclease deficiencies alter plasma cell-free DNA methylation profiles. Genome Res. 2021;31(11):2008–21. https://doi.org/10.1101/gr.275426.121. Google Scholar Nikanjam M, Kato S, Kurzrock R.
WiNGS-API: a federated genome/phenome data sharing platform enabling gene discovery and variant classification for rare diseases
Marshall CR, Bick D, Belmont JW, Taylor SL, Ashley E, Dimmock D, et al. The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic. Genome Med. 2020;12:48. https://doi.org/10.1186/s13073-020-00748-z. Google Scholar Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells
Most mammalian genomes are diploid, consisting of one haploid set of chromosomes from each parent. Haplotyping reconstructs the unique nucleotide content of the two homologous chromosome sets known as haplotypes. This process is crucial because the haplotypes can have different functional roles [1]. Recent advancements in long-read sequencing technologies provide read lengths over 10 kb and accuracy comparable to next-generation sequencing (NGS) [2].
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders - Genome Medicine
Twenty patients with a confirmed or a suspected DD for which an episignature is described (Table 1, Additional file 1: Table S1), as well as 40 healthy controls, from the Center of Human Genetics of Leuven were prospectively recruited. For the first phase of our study, we included 11 patients (EPI_01 to EPI_11) representing four diseases as well as five controls.
Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders - Genome Medicine
Abstract A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants as well as confirm clinical diagnoses. Currently, the detection of these episignature requires the use of indirect methylation profiling methodologies.
Principles guiding embryo selection following genome-wide haplotyping of preimplantation embryos
In addition to genetic disease-specific information, the embryo selected for transfer is based on ranking criteria including the existence of mitotic and/or meiotic aneuploidies, but not carriership of mutations causing recessive disorders. Embryo selection for monogenic diseases has been mainly performed using targeted disease-specific assays.
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