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Accuracy of short tandem repeats genotyping tools in whole exome sequencing data

Background: Short tandem repeats are an important source of genetic variation. They are highly mutable and repeat expansions are associated dozens of human disorders, such as Huntington's disease and spinocerebellar ataxias. Technical advantages in sequencing technology have made it possible to...

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Publicat a:F1000Res
Autors principals: Halman, Andreas, Oshlack, Alicia
Format: Artigo
Idioma:Inglês
Publicat: F1000 Research Limited 2020
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7327730/
https://ncbi.nlm.nih.gov/pubmed/32665844
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.22639.1
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