Publications

AML with complex karyotype: extreme genomic complexity revealed by combined long-read sequencing and Hi-C technology

2024 November. 10

Acute myeloid leukemia with complex karyotype (CK-AML) is associated with poor prognosis, which is only in part explained by underlying TP53 mutations.

Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation

2023 April. 11

Heterotopic ossification is a disorder caused by abnormal mineralization of soft tissues in which signaling pathways such as BMP, TGFβ, and WNT are known key players in driving ectopic bone formation.

TADA - A machine learning tool for functional annotation-based prioritisation of pathogenic CNVs

2022 March. 01

Few methods have been developed to investigate copy number variants (CNVs) based on their predicted pathogenicity. We introduce TADA, a method to prioritise pathogenic CNVs through …

Hi-C identifies complex genomic rearrangements and TAD-shuffling in developmental diseases

2020 June. 04

Genome-wide analysis methods, such as array comparative genomic hybridization (CGH) and whole-genome sequencing (WGS), have greatly advanced the identification of structural variants (SVs) in the human genome.

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