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Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes
Short tandem repeats (STRs) are hyper-mutable sequences in the human genome. They are often used in forensics and population genetics and are also the underlying cause of many genetic diseases. There are challenges associated with accurately determining the length polymorphism of STR loci in the gen...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673627/ https://www.ncbi.nlm.nih.gov/pubmed/29100084 http://dx.doi.org/10.1016/j.ajhg.2017.09.013 |