The Landscape of Human STR Variation
| العنوان: | The Landscape of Human STR Variation |
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| المؤلفون: | Willems, T., Gymrek, M., Highnam, G., The 1000 Genomes Project, C., Herwig, R., Lehrach, H., Sudbrak, R., Timmermann, B., Mittelman, D., Erlich, Y. |
| المساهمون: | Harvard University--MIT Division of Health Sciences and Technology, Massachusetts Institute of Technology. Computational and Systems Biology Program, Willems, Thomas Frederick, Gymrek, Melissa A. |
| المصدر: | Genome Research Cold Spring Harbor Laboratory Press |
| بيانات النشر: | Cold Spring Harbor Laboratory, 2014. |
| سنة النشر: | 2014 |
| مصطلحات موضوعية: | Resource, Linkage disequilibrium, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Genetic genealogy, STR multiplex system, Population, Population genetics, Genomics, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Gene Frequency, Genetic variation, Genetics, Humans, 1000 Genomes Project, education, Alleles, Genetics (clinical), education.field_of_study, Genome, Human, Genetic Variation, eye diseases, humanities, Genetics, Population, Evolutionary biology, Microsatellite Repeats, Reference genome |
| الوصف: | Short tandem repeats are among the most polymorphic loci in the human genome. These loci play a role in the etiology of a range of genetic diseases and have been frequently utilized in forensics, population genetics, and genetic genealogy. Despite this plethora of applications, little is known about the variation of most STRs in the human population. Here, we report the largest-scale analysis of human STR variation to date. We collected information for nearly 700,000 STR loci across more than 1000 individuals in Phase 1 of the 1000 Genomes Project. Extensive quality controls show that reliable allelic spectra can be obtained for close to 90% of the STR loci in the genome. We utilize this call set to analyze determinants of STR variation, assess the human reference genome’s representation of STR alleles, find STR loci with common loss-of-function alleles, and obtain initial estimates of the linkage disequilibrium between STRs and common SNPs. Overall, these analyses further elucidate the scale of genetic variation beyond classical point mutations. American Society for Engineering Education. National Defense Science and Engineering Graduate Fellowship |
| وصف الملف: | application/pdf |
| اللغة: | English |
| DOI: | 10.1101/004671 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a25b660440461593f82286267bf330e |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....9a25b660440461593f82286267bf330e |
| قاعدة البيانات: | OpenAIRE |
| DOI: | 10.1101/004671 |
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