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

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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Bibliographic Details
Main Authors: Simone Maestri, Maria Giovanna Maturo, Emanuela Cosentino, Luca Marcolungo, Barbara Iadarola, Elisabetta Fortunati, Marzia Rossato, Massimo Delledonne
Format: Article
Language:English
Published: MDPI AG 2020-12-01
Series:International Journal of Molecular Sciences
Subjects:
nanopore sequencing
variant calling
haplotype phasing
diagnostic testing
Online Access:https://www.mdpi.com/1422-0067/21/23/9177

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