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Expanded national database collection and data coverage in the FINDbase worldwide database for clinically relevant genomic variation allele frequencies
2016
Nucleic Acids Research
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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
2020
Human Mutation
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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
2013
Nucleic Acids Research
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The file type is application/pdf.
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
2010
Human Mutation
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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
2009
Human Mutation
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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