Article

Long-range PCR and Nanopore sequencing for localisation and phasing variants: an end-to-end clinical application workflow

2025-08-08

Abstract excerpt

<title>Abstract</title> <p>Background: Next-Generation short-read sequencing has limited diagnostic utility in phasing distantly separated variants and analysing genomic regions with high homology. Determining the phase of variants from parental chromosomes is critical for accurate identification of compound heterozygosity. Long-read sequencing technology is able to overcome these limitations through the analysis...

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Literature Corpus work: d563ca9f-3295-547e-be6d-377599395d11
DOI: 10.21203/rs.3.rs-7242084/v1

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