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Article

Haplotype sequence collection of ABO blood group alleles by long-read sequencing reveals putative A1-diagnostic variants.

Blood advances - 28 Mar 2023

Gueuning Morgan, Thun Gian Andri, Wittig Michael, Galati Anna-Lena, Meyer Stefan, Trost Nadine, Gourri Elise, Fuss Janina, Sigurdardottir Sonja, Merki Yvonne, Neuenschwander Kathrin, Busch Yannik, Trojok Peter, Schäfer Marco, Gottschalk Jochen, Franke Andre, Gassner Christoph, Peter Wolfgang, Frey Beat M, Mattle-Greminger Maja P

Abstract excerpt

In the era of blood group genomics, reference collections of complete and fully resolved blood group gene alleles have gained high importance. For most blood groups, however, such collections are currently lacking, as resolving full-length gene sequences as haplotypes (ie, separated maternal/paternal origin) remains exceedingly difficult with both Sanger and short-read next-generation sequencing. Using the latest...

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Identifiers

PMID: 36129841
DOI: 10.1182/bloodadvances.2022007133
PMCID: PMC10025113

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Source receipt: pubmed, retrieved 7 Sept 2026.

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