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Long-Read DNA Sequencing: Recent Advances and Remaining Challenges.

Annual review of genomics and human genetics - 25 Aug 2023

Warburton Peter E, Sebra Robert P

Abstract excerpt

DNA sequencing has revolutionized medicine over recent decades. However, analysis of large structural variation and repetitive DNA, a hallmark of human genomes, has been limited by short-read technology, with read lengths of 100-300 bp. Long-read sequencing (LRS) permits routine sequencing of human DNA fragments tens to hundreds of kilobase pairs in size, using both real-time sequencing by synthesis and...

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PMID: 37075062
DOI: 10.1146/annurev-genom-101722-103045

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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