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[Resolving Genomic Mysteries with Long-read Sequencing].

Harefuah - 1 Mar 2026

Murik Omer, Zeevi David, Mann Tzvia, Beeri Rachel, Miles Yarden, Lobel Orit, Shaviv Shira, Lazer-Derbeko Galit, Zeligson Sharon, Segel Reeval, Michaelson-Cohen Rachel, Renbaum Paul, Levy-Lahad Ephrat, Altarescu Gheona

Abstract excerpt

INTRODUCTION: Short-read next-generation sequencing (srNGS, 50-300 bp) has become the predominant first-line test for diagnosing patients with rare genetic conditions. However, this technology has inherent limitations, including reduced diagnostic yield for structural variants (SVs) and variants located in repetitive or highly homologous genomic regions. Connecting variants over large genomic distances is also...

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PMID: 41800951

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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