Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the <b><i>ACKR1</i></b> Gene Encoding the Duffy Antigens
Author(s) -
Yann Fichou,
Isabelle Berlivet,
Gaëlle Richard,
Christophe Tournamille,
Lilian Castilho,
Claude Férec
Publication year - 2019
Publication title -
transfusion medicine and hemotherapy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.971
H-Index - 39
eISSN - 1660-3818
pISSN - 1660-3796
DOI - 10.1159/000504584
Subject(s) - genetics , amplicon , biology , allele , haplotype , locus (genetics) , dna sequencing , gene , computational biology , polymerase chain reaction
In the novel era of blood group genomics, (re-)defining reference gene/allele sequences of blood group genes has become an important goal to achieve, both for diagnostic and research purposes. As novel potent sequencing technologies are available, we thought to investigate the variability encountered in the three most common alleles of ACKR1 , the gene encoding the clinically relevant Duffy antigens, at the haplotype level by a long-read sequencing approach.
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