Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing

Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably. We developed a novel algorithm called RepeatHMM to estimate repeat counts from l...

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Detalles Bibliográficos
Autores principales: Liu, Qian, Zhang, Peng, Wang, Depeng, Gu, Weihong, Wang, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514472/
https://www.ncbi.nlm.nih.gov/pubmed/28720120
http://dx.doi.org/10.1186/s13073-017-0456-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514472/
https://www.ncbi.nlm.nih.gov/pubmed/28720120
http://dx.doi.org/10.1186/s13073-017-0456-7

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