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

Daly AF, Dunnington LA, Rodriguez-Buritica DF, Spiegel E, Brancati F, Mantovani G, Rawal VM, Faucz FR, Hijazi H, Caberg JH, Nardone AM, Bengala M, Fortugno P, Del Sindaco G, Ragonese M, Gould H, Cannavò S, Pétrossians P, Lania A, Lupski JR, Beckers A, Stratakis CA, Levy B, Trivellin G, Franke M

Open source

DOI: 10.1186/s13073-024-01378-5
Published: 2024 Sep 13
Container: Genome medicine
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1186/s13073-024-01378-5,
  title = {Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.},
  author = {Daly AF and Dunnington LA and Rodriguez-Buritica DF and Spiegel E and Brancati F and Mantovani G and Rawal VM and Faucz FR and Hijazi H and Caberg JH and Nardone AM and Bengala M and Fortugno P and Del Sindaco G and Ragonese M and Gould H and Cannavò S and Pétrossians P and Lania A and Lupski JR and Beckers A and Stratakis CA and Levy B and Trivellin G and Franke M},
  year = {2024},
  journal = {Genome medicine},
  doi = {10.1186/s13073-024-01378-5},
  url = {https://doi.org/10.1186/s13073-024-01378-5}
}

RIS

TY  - JOUR
TI  - Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.
AU  - Daly AF
AU  - Dunnington LA
AU  - Rodriguez-Buritica DF
AU  - Spiegel E
AU  - Brancati F
AU  - Mantovani G
AU  - Rawal VM
AU  - Faucz FR
AU  - Hijazi H
AU  - Caberg JH
AU  - Nardone AM
AU  - Bengala M
AU  - Fortugno P
AU  - Del Sindaco G
AU  - Ragonese M
AU  - Gould H
AU  - Cannavò S
AU  - Pétrossians P
AU  - Lania A
AU  - Lupski JR
AU  - Beckers A
AU  - Stratakis CA
AU  - Levy B
AU  - Trivellin G
AU  - Franke M
PY  - 2024
JO  - Genome medicine
DO  - 10.1186/s13073-024-01378-5
UR  - https://doi.org/10.1186/s13073-024-01378-5
ER  -

APA

AF, D., LA, D., DF, R., E, S., F, B., G, M., VM, R., FR, F., H, H., JH, C., AM, N., M, B., P, F., G, D. S., M, R., H, G., S, C., P, P., A, L., JR, L., A, B., CA, S., B, L., G, T., & M, F. (2024). Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus.. Genome medicine. https://doi.org/10.1186/s13073-024-01378-5

Source records

pubmed · retrieved 2026-09-26T09:00:44.900Z
europe-pmc · retrieved 2026-09-26T09:00:44.925Z
doaj · retrieved 2026-09-26T09:00:44.893Z