Mapping long-read sequences to a complete reference genome reveals uncaptured variants across the β-Globin cluster in Africans with sickle cell disease.

Lurie P; Mahmoud M; Haldipur A; Han Y; Li Q; Wonkam Tingang E; Asmus N; Banfield E; Hall NJ; Tayo B; Cooper R; Akingbola T; Ayodo G; Obaro S; Lettre G; Meng Q; Jhangiani S; Harris RA; Worley KC; Kim J; Rhie A; Phillippy AM; Sedlazeck F; Wonkam A; Hanchard NA

doi:10.1016/j.xhgg.2026.100669

Mapping long-read sequences to a complete reference genome reveals uncaptured variants across the β-Globin cluster in Africans with sickle cell disease.

Lurie P Mahmoud M Haldipur A Han Y Li Q Wonkam Tingang E Asmus N Banfield E Hall NJ Tayo B Cooper R Akingbola T Ayodo G Obaro S Lettre G Meng Q Jhangiani S Harris RA Worley KC Kim J Rhie A Phillippy AM Sedlazeck F Wonkam A Hanchard NA

Journal: HGG advances • 2026 Oct 8

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Subjects & Keywords

# Biomedical Sciences # Life Sciences # Medicine

How to Cite this Article

                    Lurie P, Mahmoud M, Haldipur A, et al. (2026). "Mapping long-read sequences to a complete reference genome reveals uncaptured variants across the β-Globin cluster in Africans with sickle cell disease.". HGG advances. https://doi.org/10.1016/j.xhgg.2026.100669                

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Identifiers & Provenance

DOI: 10.1016/j.xhgg.2026.100669 ↗
PMCID: PMC13651657 ↗
PMID: 42693638 ↗
Primary Index: PMC