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Article

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

International journal of molecular sciences - 1 Dec 2020

Maestri Simone, Maturo Maria Giovanna, Cosentino Emanuela, Marcolungo Luca, Iadarola Barbara, Fortunati Elisabetta, Rossato Marzia, Delledonne Massimo

Abstract excerpt

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 reads covering small genomic regions, allows only indirect haplotyping based on statistical methods. In contrast,...

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Identifiers

PMID: 33271988
DOI: 10.3390/ijms21239177
PMCID: PMC7731377

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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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