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Article

Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus.

Laboratory investigation; a journal of technical methods and pathology - 1 Aug 2023

McClinton Benjamin, Watson Christopher M, Crinnion Laura A, McKibbin Martin, Ali Manir, Inglehearn Chris F, Toomes Carmel

Abstract excerpt

Short-read next-generation sequencing has revolutionized our ability to identify variants underlying inherited diseases; however, it does not allow the phasing of variants to clarify their diagnostic interpretation. The advent of widespread, increasingly accurate long-read sequencing has opened up new applications not currently available through short-read next-generation sequencing. One such use is the ability...

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PMID: 37088464
DOI: 10.1016/j.labinv.2023.100160

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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