A highly informative SNP linkage panel for human genetic studies
العنوان: | A highly informative SNP linkage panel for human genetic studies |
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المؤلفون: | Sarah S. Murray, Arnold Oliphant, Stuart G Shannon, Richard Shen, Mark S. Chee, Todd Rubano, Bahram Ghaffarzadeh Kermani, Jian-Bing Fan, Mark Hansen, Rhoberta Steeke, Celeste McBride |
المصدر: | Nature Methods. 1:113-117 |
بيانات النشر: | Springer Science and Business Media LLC, 2004. |
سنة النشر: | 2004 |
مصطلحات موضوعية: | Linkage (software), Genetics, Single-nucleotide polymorphism, Cell Biology, Tag SNP, Biology, Biochemistry, Minor allele frequency, symbols.namesake, Genetic linkage, Mendelian inheritance, symbols, SNP, Molecular Biology, Biotechnology, Genetic association |
الوصف: | We have developed a highly informative set of single-nucleotide polymorphism (SNP) assays designed for linkage mapping of the human genome. These assays were developed on a robust multiplexed assay system to provide a combination of very high accuracy and data completeness with high throughput for linkage studies. The linkage panel is comprised of approximately 4,700 SNPs with 0.39 average minor allele frequency and 624-kb average spacing. Based on almost 2 million genotypes, data quality was shown to be extremely high, with a 99.94% call rate, >99.99% reproducibility and 99.995% genotypes consistent with mendelian inheritance. We constructed a genetic map with an average 1.5-cM resolution using series of 28 CEPH pedigrees. The relative information content of this panel was higher than those of commonly used STR marker panels. The potent combination of this SNP linkage panel with the multiplexed assay system provides a previously unattainable level of performance for linkage studies. |
تدمد: | 1548-7105 1548-7091 |
URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_________::6ad596509be355de27cbd79a1240208f https://doi.org/10.1038/nmeth712 |
حقوق: | CLOSED |
رقم الأكسشن: | edsair.doi...........6ad596509be355de27cbd79a1240208f |
قاعدة البيانات: | OpenAIRE |
تدمد: | 15487105 15487091 |
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