Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

Daly, A. F., Dunnington, L. A., Rodriguez-Buritica, D. F., Spiegel, E., Brancati, F., Mantovani, G., Rawal, V. M., Faucz, F. R., Hijazi, H., Caberg, J.-H., Nardone, A. M., Bengala, M., Fortugno, P., Del Sindaco, G., Ragonese, M., Gould, H., Cannavò, S., Pétrossians, P., Lania, A., … Franke, M. (2024). Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus. Genome Medicine, 16(1). https://doi.org/10.1186/s13073-024-01378-5
Authors:
Adrian Daly
Leslie Dunnington
David Rodriguez‐Buritica
Erica Spiegel
Francesco Brancati
Giovanna Mantovani
Vandana M Rawal
Fábio R. Faucz
Hadia Hijazi
Jean‐Hubert Caberg
Anna Maria Nardone
Mario Bengala
Paola Fortugno
Giulia Del Sindaco
Marta Ragonese
Helen Gould
Salvatore Cannavò
Patrick Pétrossians
Andrea Lania
James R. Lupski
Albert Beckers
Constantine A. Stratakis
Brynn Levy
Giampaolo Trivellin
Martin Franke
Affiliated Authors:
Erica Spiegel
Brynn Levy
Author Keywords:
4c
chromosome microarray
enhancer
gpr101
hic
neo-tad
pituitary tumor
prenatal diagnosis
topologically associating domains
x-linked acrogigantism
Publication Type:
Article
Unique ID:
10.1186/s13073-024-01378-5
PMID:
Journal:
Publication Date:
Data Source:
OpenAlex

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