Dataset Information

The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource.

ABSTRACT: Genotyping efforts in hemophilia A (HA) populations in many countries have identified large numbers of unique mutations in the Factor VIII gene (F8). To assist HA researchers conducting genotyping analyses, we have developed a listing of F8 mutations including those listed in existing locus-specific databases as well as those identified in patient populations and reported in the literature. Each mutation was reviewed and uniquely identified using Human Genome Variation Society (HGVS) nomenclature standards for coding DNA and predicted protein changes as well as traditional nomenclature based on the mature, processed protein. Listings also include the associated hemophilia severity classified by International Society of Thrombosis and Haemostasis (ISTH) criteria, associations of the mutations with inhibitors, and reference information. The mutation list currently contains 2,537 unique mutations known to cause HA. HA severity caused by the mutation is available for 2,022 mutations (80%) and information on inhibitors is available for 1,816 mutations (72%). The CDC Hemophilia A Mutation Project (CHAMP) Mutation List is available at http://www.cdc.gov/hemophiliamutations for download and search and will be updated quarterly based on periodic literature reviews and submitted reports.

SUBMITTER: Payne AB

PROVIDER: S-EPMC4519832 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature

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The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource.

Payne Amanda B AB Miller Connie H CH Kelly Fiona M FM Michael Soucie J J Craig Hooper W W

Human mutation 20121226 2

Genotyping efforts in hemophilia A (HA) populations in many countries have identified large numbers of unique mutations in the Factor VIII gene (F8). To assist HA researchers conducting genotyping analyses, we have developed a listing of F8 mutations including those listed in existing locus-specific databases as well as those identified in patient populations and reported in the literature. Each mutation was reviewed and uniquely identified using Human Genome Variation Society (HGVS) nomenclatur ...[more]

PMID: 23280990

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Project description:BackgroundA comprehensive, comparable assessment of the economic disease burden and the value of relevant care forms a major challenge in the case of mental diseases. This study aimed to inform the development of a resource use measurement (RUM) instrument and harmonized reference unit costs valid for multi-sectoral and multi-national cost assessments for mental health diseases as part of the European PECUNIA project.MethodsAn iterative, multi-methods approach was applied. Systematic literature reviews appended with national grey literature searches in six European countries were conducted to generate preliminary, literature-based, international, mental health-related service and resource use lists for all investigated sectors in 2018. As part of a multi-national expert survey, these lists were reviewed by 18 Austrian sector-specific experts regarding the clarity, relevance, comprehensiveness and availability in the Austrian context.ResultsOut of 295 items included in the preliminary, international, sector-specific lists (health and social care-201 items, criminal justice-35 items, education-39 items; patient, family and informal care-20 items), a total of 261 items and descriptions (88%) were considered clear by all experts. 42 items (14%) were considered not existing in Austria, and 111 items (38%) were prioritized regarding their relevance in the national context. Thirteen additional items (4%) were suggested to be added to accommodate for Austria-specific features of the individual sectors. Major typological difficulties based on item names were observed.ConclusionsThe identified country-specific variations and general typological bias and their potential contributions to service and resource use cost variations across countries and sectors call for further systematic investigation. Next, PECUNIA will develop internationally harmonized and comparable definitions of the listed items and their units of analysis based on a new conceptual multi-sectoral costing framework. The developed lists will require consolidation and further prioritization for the development of a patient-reported RUM instrument and consequent reference unit cost valuation.

Dataset Information

The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource.

Publications

The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource.

Similar Datasets

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