Literature DB >> 16705699

The cypriot and Iranian National Mutation Frequency Databases.

Marina Kleanthous1, Philippos C Patsalis, Anthi Drousiotou, Mehdi Motazacker, Kyproula Christodoulou, Marios Cariolou, Erol Baysal, Kimia Khrizi, Babak Moghimi, Farzin Pourfarzad, Sjozef van Baal, Constantinos Deltas, Hossein Najmabadi, George P Patrinos.   

Abstract

The National Mutation Frequency Databases are continuously updated mutation depositories, which contain extensive information over the described genetic heterogeneity of an ethnic group or population. Here, we report the construction of the Cypriot (http://www.goldenhelix.org/cypriot) and Iranian National Mutation Frequency Databases (http://www.goldenhelix.org/iranian), both derived from an academic effort to provide high quality and up-to-date information on the underlying genetic heterogeneity of inherited disorders in the Cypriot and Iranian populations, respectively. Both databases have been built and maintained online using ETHNOS platform, a specialized software, which provides the means for national mutation database construction and curation. Each database contains brief summaries of the various genetic disorders studied for each population, and an easy-to-use query interface provides, both to specialist as well as to non-specialist users (i.e. patients and their families), instant access to the list and frequencies of the different mutations responsible for the inherited disorders in these populations. Furthermore, numerous links to the respective Online Mendelian Inheritance in Man (OMIM) entries and, when available, to the locus-specific databases fruitfully integrate the databases content into a single Web site. Both databases can serve as valuable online tools for molecular genetic testing of inherited disorders in these populations and could potentially motivate further investigations of yet unknown genetic diseases in the Cypriot and Iranian populations.

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Year:  2006        PMID: 16705699     DOI: 10.1002/humu.9422

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  6 in total

1.  Institutional Profile: Golden Helix Institute of Biomedical Research: interdisciplinary research and educational activities in pharmacogenomics and personalized medicine.

Authors:  Konstantinos Mitropoulos; Federico Innocenti; Ron H van Schaik; Alexander Lezhava; Giannis Tzimas; Panagoula Kollia; Milan Macek; Paolo Fortina; George P Patrinos
Journal:  Pharmacogenomics       Date:  2012-03       Impact factor: 2.533

2.  ETHNOS : A versatile electronic tool for the development and curation of national genetic databases.

Authors:  Sjozef van Baal; Joël Zlotogora; George Lagoumintzis; Vassiliki Gkantouna; Ioannis Tzimas; Konstantinos Poulas; Athanassios Tsakalidis; Giovanni Romeo; George P Patrinos
Journal:  Hum Genomics       Date:  2010-06       Impact factor: 4.639

3.  Indian genetic disease database.

Authors:  Sanchari Pradhan; Mainak Sengupta; Anirban Dutta; Kausik Bhattacharyya; Sumit K Bag; Chitra Dutta; Kunal Ray
Journal:  Nucleic Acids Res       Date:  2010-10-30       Impact factor: 16.971

4.  Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection.

Authors:  George P Patrinos; Jumana Al Aama; Aida Al Aqeel; Fahd Al-Mulla; Joseph Borg; Andrew Devereux; Alex E Felice; Finlay Macrae; Makia J Marafie; Michael B Petersen; Ming Qi; Rajkumar S Ramesar; Joel Zlotogora; Richard G H Cotton
Journal:  Hum Mutat       Date:  2011-01       Impact factor: 4.878

5.  FINDbase: a relational database recording frequencies of genetic defects leading to inherited disorders worldwide.

Authors:  Sjozef van Baal; Polynikis Kaimakis; Manyphong Phommarinh; Daphne Koumbi; Harry Cuppens; Francesca Riccardino; Milan Macek; Charles R Scriver; George P Patrinos
Journal:  Nucleic Acids Res       Date:  2006-11-28       Impact factor: 16.971

6.  The first Malay database toward the ethnic-specific target molecular variation.

Authors:  Hashim Halim-Fikri; Ali Etemad; Ahmad Zubaidi Abdul Latif; Amir Feisal Merican; Atif Amin Baig; Azlina Ahmad Annuar; Endom Ismail; Iman Salahshourifar; Ahmad Tajudin Liza-Sharmini; Marini Ramli; Mohamed Irwan Shah; Muhammad Farid Johan; Nik Norliza Nik Hassan; Noraishah Mydin Abdul-Aziz; Noor Haslina Mohd Noor; Ab Rajab Nur-Shafawati; Rosline Hassan; Rosnah Bahar; Rosnah Binti Zain; Shafini Mohamed Yusoff; Surini Yusoff; Soon Guan Tan; Meow-Keong Thong; Hatin Wan-Isa; Wan Zaidah Abdullah; Zahurin Mohamed; Zarina Abdul Latiff; Bin Alwi Zilfalil
Journal:  BMC Res Notes       Date:  2015-04-30
  6 in total

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