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Review Open access Sep 2026

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

Summary African genomes are marked by extensive complexity in the number and distribution of variants yet remain under-represented in genetic databases and the human reference genome. This gap in representation limits the broad application of genomic medicine. Sickle cell disease (SCD)—one of the most common monogenic...

Pamela D. Lurie, M. Mahmoud, Aparna Haldipur et al. · 0 citations
Open access Sep 2026

pycmplot: fast, low-memory multi-track circular and linear Manhattan plotting in Python

Abstract Motivation Manhattan plots remain the standard visual summary for genome-wide association studies and other per-variant scans (iHS, FST, XP-EHH). Existing Manhattan visualization tools either lack multi-track support (gwaslab, qmplot, and qqman) or do not provide a Circos-style multi-track circular Manhattan v...

K. Esoh, Fujr Osman, Cesar A. Fortes-Lima et al. · 0 citations
#gene editing Review Open access Sep 2026

Informed consent for somatic gene editing for sickle cell disease in sub-Saharan Africa: a scoping review

An in-depth literature review of the current approaches to informed consent for somatic gene editing and gene therapy and identify potential areas for improvement, specifically in relation to SCD in sSA is conducted.

Patrick Ohiani Moru, O. Nnodu, V. Nembaware et al. · 0 citations

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