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Genetic Databases and Online Ring Chromosome Registry

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Human Ring Chromosomes

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Abstract

The rapid adaptations of genomic technologies into genetic testing require knowledge-based genetic databases and disease registries in various capacities. General Web resources for clinical and diagnostic genetics include the UCSC (University of California, Santa Cruz) Genome Browser, Online Mendelian Inheritance in Man (OMIM), Clinical Genome Resource (ClinGen), database of chromosomal imbalance and phenotype in humans using ensemble resource (DECIPHER), and Database of Genomic Variants (DGV). Clinical cytogenetics and ring chromosome related web resources include the ChromoSomics database for small supernumerary marker and ring chromosomes (sSMC/sSRC), atlas of genetics and cytogenetics in oncology and hematology (AGCOH), patient advocate organization (PAO) developed supporting and networking groups for specific ring chromosomes, and an online human ring chromosome registry. This registry represents efforts from the international consortium for human ring chromosome (ICHRC) to compile and curate cytogenomic and clinical findings for better diagnostic interpretation and clinical management for patients affected by ring chromosomes.

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Authors and Affiliations

  1. Department of Cell Biology and Genetics, School of Basic Medical Sciences, Guangxi Medical University, Nanning, Guangxi, China

    Qiping Hu

  2. Department of Genetics, Yale School of Medicine, New Haven, CT, USA

    Deqiong Ma & Peining Li

  3. Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Am Klinikum 1, D-07747, Jena, Germany

    Thomas Liehr

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  1. Qiping Hu
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  2. Deqiong Ma
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  3. Peining Li
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  4. Thomas Liehr
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Correspondence to Qiping Hu .

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Editors and Affiliations

  1. Laboratory of Clinical Cytogenetics, Department of Genetics, Yale School of Medicine, New Haven, CT, USA

    Peining Li

  2. Jena University Hospital, Institute of Human Genetics, Friedrich Schiller University, Jena, Germany

    Thomas Liehr

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Hu, Q., Ma, D., Li, P., Liehr, T. (2024). Genetic Databases and Online Ring Chromosome Registry. In: Li, P., Liehr, T. (eds) Human Ring Chromosomes. Springer, Cham. https://doi.org/10.1007/978-3-031-47530-6_3

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