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

Autor: Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Dunnington LA; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center (UTHealth Houston), Houston, TX, USA.; Memorial Hermann-Texas Medical Center, University of Texas Health Science Center at Houston, Houston, TX, USA., Rodriguez-Buritica DF; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center (UTHealth Houston), Houston, TX, USA.; Memorial Hermann-Texas Medical Center, University of Texas Health Science Center at Houston, Houston, TX, USA., Spiegel E; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, 10032, USA., Brancati F; Department of Life, Health and Environmental Sciences, University of L'Aquila, Via Spennati N.1, L'Aquila, 67010, Italy.; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy., Mantovani G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Rawal VM; Austin Diagnostic Clinic, 2400 Cedar Bend Dr, Austin, TX, 78758, USA., Faucz FR; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, MD, USA., Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Caberg JH; Department of Human Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Nardone AM; Medical Genetics Laboratory, Policlinico Tor Vergata Hospital, Viale Oxford 81, Rome, 00133, Italy., Bengala M; Medical Genetics Laboratory, Policlinico Tor Vergata Hospital, Viale Oxford 81, Rome, 00133, Italy., Fortugno P; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy.; Università Telematica San Raffaele, Rome, Italy., Del Sindaco G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Ragonese M; Department of Human Pathology of Adulthood and Childhood DETEV, Endocrinology Unit, University of Messina, 98125, Messina, Italy., Gould H; Austin Maternal Fetal Medicine, 12200 Renfert Way Ste G3, Austin, TX, 78758, USA., Cannavò S; Department of Human Pathology of Adulthood and Childhood DETEV, Endocrinology Unit, University of Messina, 98125, Messina, Italy., Pétrossians P; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Lania A; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, Milan, 20072, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Beckers A; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Stratakis CA; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, MD, USA.; Human Genetics and Precision Medicine, Institute of Molecular Biology and Biotechnology (IMBB), Foundation for Research and Technology Hellas, Heraklion, Greece.; ASTREA Health, Athens, Greece., Levy B; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Trivellin G; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, Milan, 20072, Italy. giampaolo.trivellin@hunimed.eu.; IRCCS Humanitas Research Hospital, Milan, Italy. giampaolo.trivellin@hunimed.eu., Franke M; Andalusian Center for Developmental Biology (CABD), Junta de Andalucia - Universidad Pablo de Olavide (UPO) - Consejo Superior de Investigaciones Cientificas (CSIC), Seville, Spain. mfra2@upo.es.

Publikováno v: Genome medicine [Genome Med] 2024 Sep 13; Vol. 16 (1), pp. 112. Date of Electronic Publication: 2024 Sep 13.