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Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies

Emmanouil Viennas, Angeliki Komianou, Clint Mizzi, Maja Stojiljkovic, Christina Mitropoulou, Juha Muilu, Mauno Vihinen, Panagiota Grypioti, Styliani Papadaki, Cristiana Pavlidis, Branka Zukic, Theodora Katsila (+4 others)
2016 Nucleic Acids Research  
FINDbase (http://www.findbase.org) is a comprehensive data repository that records the prevalence of clinically relevant genomic variants in various populations worldwide, such as pathogenic variants leading  ...  and (iv) the interrelation of FINDbase with DruGeVar database with direct implications in clinical pharmacogenomics.  ...  Also, the authors are indebted to all FINDbase users worldwide for their valuable comments and suggestions, which helped us to keep the information as updated and complete as possible and also contributed  ... 
doi:10.1093/nar/gkw949 pmid:27924022 pmcid:PMC5210643 fatcat:blq746iqefdeti4ush75ki3aw4

Documentation of clinically relevant genomic biomarker allele frequencies in the next-generation FINDbase worldwide database

Fotios Kounelis, Alexandros Kanterakis, Andreas Kanavos, Maria-Theodora Pandi, Zoe Kordou, Olivia Manusama, Gerasimos Vonitsanos, Theodora Katsila, Evangelia-Eirini Tsermpini, Volker M. Lauschke, Maria Koromina, Peter J. van der Spek (+1 others)
2020 Human Mutation  
FINDbase (http://www.findbase.org) is a comprehensive data resource recording the prevalence of clinically relevant genomic variants in various populations worldwide, such as pathogenic variants underlying  ...  Data collection is significantly enriched, with the data records being divided in a Public and Private version, the latter being accessed on the basis of data contribution, according to the microattribution  ...  of clinically relevant genomic variation allele frequencies in various populations and ethnic groups worldwide (van Baal et al., 2007) .  ... 
doi:10.1002/humu.24018 pmid:32248568 fatcat:jifzf476fzerpdkuuwp4sj4zua

Updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Belinda Giardine, Joseph Borg, Emmanouil Viennas, Cristiana Pavlidis, Kamran Moradkhani, Philippe Joly, Marina Bartsakoulia, Cathy Riemer, Webb Miller, Giannis Tzimas, Henri Wajcman, Ross C. Hardison (+1 others)
2013 Nucleic Acids Research  
ACKNOWLEDGEMENTS The authors thank all the HbVar users worldwide for their valuable comments and suggestions, which help us to keep the information as updated and complete as possible and also contribute  ...  to the continuous improvement of the database profile and contents.  ...  FINDbase (http://www.findbase.org; 11) is a global database documenting allele frequencies of clinically relevant genomic variations, namely, causative mutations and pharmacogenomic markers, in various  ... 
doi:10.1093/nar/gkt911 pmid:24137000 pmcid:PMC3964999 fatcat:v5lxlyw7a5dstadjq2iewriz6e

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

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 (+2 others)
2010 Human Mutation  
genome, will be valuable in understanding the range of both pathological and nonpathological variations.  ...  Here, we propose several recommendations and guidelines to facilitate participation of developing countries in genetic variation data documentation, ensuring an accurate and comprehensive worldwide data  ...  Acknowledgments We thank the members of the developing countries working group at the HVP planning and implementation meetings for lively and helpful discussions.  ... 
doi:10.1002/humu.21397 pmid:21089065 pmcid:PMC3058135 fatcat:zefizylib5chfivkyrqyejpb5e

Planning the Human Variome Project: The Spain report

Jim Kaput, Richard G.H. Cotton, Lauren Hardman, Michael Watson, Aida I. Al Aqeel, Jumana Y. Al-Aama, Fahd Al-Mulla, Santos Alonso, Stefan Aretz, Arleen D. Auerbach, Bharati Bapat, Inge T. Bernstein (+90 others)
2009 Human Mutation  
A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome.  ...  The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., microarrays  ...  The goal of this international effort is to characterize alleles with frequencies of approximately 1% genome-wide and less than 1% in coding regions.  ... 
doi:10.1002/humu.20972 pmid:19306394 pmcid:PMC5879779 fatcat:b4zgokrx2rddpi6uw35owbjvme