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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2017
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| Materias: | |
| 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 |