A Long-Read Sequencing Approach for Direct Haplotype Phasing in Clinical Settings

The reconstruction of individual haplotypes can facilitate the interpretation of disease risks; however, high costs and technical challenges still hinder their assessment in clinical settings. Second-generation sequencing is the gold standard for variant discovery but, due to the production of short...

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Detalles Bibliográficos
Autores principales: Maestri, Simone, Maturo, Maria Giovanna, Cosentino, Emanuela, Marcolungo, Luca, Iadarola, Barbara, Fortunati, Elisabetta, Rossato, Marzia, Delledonne, Massimo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7731377/
https://www.ncbi.nlm.nih.gov/pubmed/33271988
http://dx.doi.org/10.3390/ijms21239177

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7731377/
https://www.ncbi.nlm.nih.gov/pubmed/33271988
http://dx.doi.org/10.3390/ijms21239177

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