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...

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Udgivet i:Am J Hum Genet
Main Authors: Tang, Haibao, Kirkness, Ewen F., Lippert, Christoph, Biggs, William H., Fabani, Martin, Guzman, Ernesto, Ramakrishnan, Smriti, Lavrenko, Victor, Kakaradov, Boyko, Hou, Claire, Hicks, Barry, Heckerman, David, Och, Franz J., Caskey, C. Thomas, Venter, J. Craig, Telenti, Amalio
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2017
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5673627/
https://ncbi.nlm.nih.gov/pubmed/29100084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.09.013
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