Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression

SIMPLE SUMMARY: Phase analysis to distinguish between in cis and in trans heterozygous mutations is important for clinical diagnosis because in trans compound heterozygous mutations cause autosomal recessive diseases. However, conventional phase analysis is limited because of the large target size o...

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Detalles Bibliográficos
Autores principales: Ura, Hiroki, Togi, Sumihito, Niida, Yo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8063809/
https://www.ncbi.nlm.nih.gov/pubmed/33804940
http://dx.doi.org/10.3390/biology10040256

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8063809/
https://www.ncbi.nlm.nih.gov/pubmed/33804940
http://dx.doi.org/10.3390/biology10040256

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