- Title
- Recommendations from the international stroke genetics consortium, part 2: biological sample collection and storage
- Creator
- Battey, Thomas W. K.; Valant, Valerie; Kassis, Sylvia Baedorf; Kourkoulis, Christina; Lee, Chaeyoung; Anderson, Christopher D.; Falcone, Guido J.; Jimenez-Conde, Jordi; Fernandez-Cadenas, Israel; Pare, Guillaume; Rundek, Tatjana; James, Michael L.; Lemmens, Robin; Lee, Tsong-Hai; Tatlisumak, Turgut; Kittner, Steven J.; Lindgren, Arne; Mateen, Farrah J.; Berkowitz, Aaron L.; Holliday, Elizabeth G.; Maguire, Jane
- Relation
- Stroke Vol. 46, Issue 1, p. 285-290
- Publisher Link
- http://dx.doi.org/10.1161/STROKEAHA.114.006851
- Publisher
- Lippincott Williams & Wilkins
- Resource Type
- journal article
- Date
- 2015
- Description
- The revolution in human genetics, catalyzed by the sequencing of the human genome in 2003 and the development of genome-wide genotyping technologies, has led to the identification of >2000 trait-associated genetic variants. Because most of these variants have individually small effects on disease risk, successful gene discovery efforts have required large sample sizes (involving thousands, tens, or hundreds of thousands of cases and controls) to achieve sufficient study power. Amassing such sample sizes has depended on international collaboration on a scale never seen before in human genetics or even in clinical research. Disease-specific consortia bringing together many individual sites and collaborators have now evolved for many major diseases. Each consortium has faced with ≥2 fundamental questions: how to assemble a study sample of sufficient size, homogeneity, and phenotypic quality and how to retain and analyze, sometimes repeatedly over several years, biological samples from enrolled subjects.
- Subject
- biobank; biorepository; collaboration; consortium; genetics; risk factors; stroke
- Identifier
- http://hdl.handle.net/1959.13/1333328
- Identifier
- uon:27063
- Identifier
- ISSN:0039-2499
- Language
- eng
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