FINDbase: a worldwide database for genetic variation allele frequencies updated

Frequency of INherited Disorders database (FIND base; http://www.findbase.org) records frequencies of causative genetic variations worldwide. Database records include the population and ethnic group or geographical region, the disorder name and the related gene, accompanied by links to any related external resources and the genetic variation together with its frequency in that population. In addition to the regular data content updates, we report the following significant advances: (i) the systematic collection and thorough documentation of population/ethnic group-specific pharmacogenomic markers allele frequencies for 144 markers in 14 genes of pharmacogenomic interest from different classes of drug-metabolizing enzymes and transporters, representing 150 populations and ethnic groups worldwide; (ii) the development of new data querying and visualization tools in the expanded FINDbase data collection, built around Microsoft’s PivotViewer software (http://www.getpivot.com), based on Microsoft Silverlight technology (http://www.silverlight.net) that facilitates querying of large data sets and visualizing the results; and (iii) the establishment of the first database journal, by affiliating FINDbase with Human Genomics and Proteomics, a new open-access scientific journal, which would serve as a prime example of a non-profit model for sustainable database funding

Copy number variation and genomic alterations in health and disease

A report of the 1st GOLDEN HELIX Symposium 'Copy number variation and genomic alterations in health and disease', Athens, Greece, 28-29 November 2008

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

Frequency of INherited Disorders database (FINDbase) () is a relational database, derived from the ETHNOS software, recording frequencies of causative mutations leading to inherited disorders worldwide. Database records include the population and ethnic group, the disorder name and the related gene, accompanied by links to any corresponding locus-specific mutation database, to the respective Online Mendelian Inheritance in Man entries and the mutation together with its frequency in that population. The initial information is derived from the published literature, locus-specific databases and genetic disease consortia. FINDbase offers a user-friendly query interface, providing instant access to the list and frequencies of the different mutations. Query outputs can be either in a table or graphical format, accompanied by reference(s) on the data source. Registered users from three different groups, namely administrator, national coordinator and curator, are responsible for database curation and/or data entry/correction online via a password-protected interface. Databaseaccess is free of charge and there are no registration requirements for data querying. FINDbase provides a simple, web-based system for population-based mutation data collection and retrieval and can serve not only as a valuable online tool for molecular genetic testing of inherited disorders but also as a non-profit model for sustainable database funding, in the form of a ‘database-journal’

Conference scene : Golden Helix Pharmacogenomics Days : educational activities on pharmacogenomics and personalized medicine

The Golden Helix Pharmacogenomics Days are high-profile international educational scientific meetings discussing pharmacogenomics and personalized medicine. Here, we provide an overview of the scientific lectures and the topics discussed during the 4th Golden Helix Pharmacogenomics Day, held in Cagliari, Italy, on 7 October 2011, and the 5th Golden Helix Pharmacogenomics Day, that was held in Msida, Malta, on 3 December 2011. The scientific programs of both events included scientific and company lectures on pharmacogenomics, bioinformatics and personalized medicine by local and international speakers from Europe and the USA.peer-reviewe

The Israeli National Genetic database: a 10-year experience

BACKGROUND: The Israeli National and Ethnic Mutation database ( http://server.goldenhelix.org/israeli ) was launched in September 2006 on the ETHNOS software to include clinically relevant genomic variants reported among Jewish and Arab Israeli patients. In 2016, the database was reviewed and corrected according to ClinVar ( https://www.ncbi.nlm.nih.gov/clinvar ) and ExAC ( http://exac.broadinstitute.org ) database entries. The present article summarizes some key aspects from the development and continuous update of the database over a 10-year period, which could serve as a paradigm of successful database curation for other similar resources.RESULTS: In September 2016, there were 2444 entries in the database, 890 among Jews, 1376 among Israeli Arabs, and 178 entries among Palestinian Arabs, corresponding to an ~4× data content increase compared to when originally launched. While the Israeli Arab population is much smaller than the Jewish population, the number of pathogenic variants causing recessive disorders reported in the database is higher among Arabs (934) than among Jews (648). Nevertheless, the number of pathogenic variants classified as founder mutations in the database is smaller among Arabs (175) than among Jews (192). In 2016, the entire database content was compared to that of other databases such as ClinVar and ExAC. We show that a significant difference in the percentage of pathogenic variants from the Israeli genetic database that were present in ExAC was observed between the Jewish population (31.8%) and the Israeli Arab population (20.6%).CONCLUSIONS: The Israeli genetic database was launched in 2006 on the ETHNOS software and is available online ever since. It allows querying the database according to the disorder and the ethnicity; however, many other features are not available, in particular the possibility to search according to the name of the gene. In addition, due to the technical limitations of the previous ETHNOS software, new features and data are not included in the present online version of the database and upgrade is currently ongoing

Relevance of pharmacogenomics for developing countries in Europe : implementation in the Maltese population

Pharmacogenomics is a promising new discipline that can realize personalized treatment for patients suffering from many common diseases, particularly those with multiple treatment modalities. Recent advances in the deciphering of the human genome sequence and high throughput genotyping technology have led to the reduction of the overall genotyping costs and enabled the inclusion of genotype-related dosing recommendations into drug package inserts, hence allowing the integration of pharmacogenomics into clinical practice. Although, pharmacogenomics gradually assumes an integral part in mainstream medical practice in developed countries, many countries, particularly from the developing world, still do not have access either to the knowledge or the resources to individualize drug treatment. The PharmacoGenetics for Every Nation Initiative (PGENI) aims to fill in this gap, by making pharmacogenomics globally applicable, not only by defining population-specific pharmacogenomic marker frequency profiles and formulating country-specific recommendations for drug efficacy and safety but also by increasing general public and healthcare professionals’ awareness over pharmacogenomics and genomic medicine. This article highlights the PGENI activities in Europe and its implementation in the Maltese population, in an effort to make pharmacogenomics readily applicable in European healthcare systems.peer-reviewe

Computational tools and repositories for precision therapeutics in the post-genomic era

In the post-genomic era, the rapid evolution of high-throughput genotyping technologies and the increased pace of production of genetic research data, are continually prompting the development of appropriate informatics tools, systems and databases as we attempt to cope with the flood of incoming genetic information. Alongside new technologies that serve to enhance data connectivity, emerging information systems should contribute to the creation of a powerful knowledge environment for genotype-to-phenotype information in the context of translational medicine. In the area of pharmacogenomics and personalized medicine, it has become evident that database applications providing important information on the occurrence and consequences of gene variants involved in pharmacokinetics, pharmacodynamics, drug efficacy and drug toxicity, will become an integral tool for researchers and medical practitioners alike. At the same time, two fundamental issues are inextricably linked to current developments, namely data sharing and data protection. In this lecture, the impact of high throughput and next generation sequencing technology and its impact on pharmacogenomics research and clinical implementation of genomic medicine will be addressed. In addition, advances and challenges in the field of pharmacogenomics information systems will be discussed, which in turn prompted the development of an integrated electronic ‘pharmacogenomics assistant’. The system is designed to provide personalized drug recommendations based on linked genotype-to-phenotype pharmacogenomics data, as well as to support biomedical researchers in the identification of pharmacogenomic related gene variants.Book of abstract: 4th Belgrade Bioinformatics Conference, June 19-23, 202