Article

Mutation profiling of the F508del CFTR allele using haplotype-resolved long-read next generation sequencing

2021-02-02

Abstract excerpt

Current approaches to characterize the mutational profile of CFTR are based on targeted mutation analysis (TMA) or whole gene studies derived from short-read next generation sequencing (NGS). However, these methods lack phasing capability which, in certain scenarios, can provide clinically valuable information. In the present work, we performed near-full length CFTR using Single-Molecule Real-Time Sequencing to pr...

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Literature Corpus work: 1d44fc58-b04d-5a12-9827-9bf5fd8a7383
DOI: 10.22541/au.161225491.14153503/v1

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