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Publications

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

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

November 10, 2024

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

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.

April 11, 2023

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

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 …

March 01, 2022

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

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.

June 04, 2020

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