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article · Transfusion

CD59 gene: 143 haplotypes of 22,718 nucleotides length by computational phasing in 113 individuals from different ethnicities

20242 citationsOpen accessAddis Ababa University

Abstract

We provided a large set of haplotypes and proposed three verified long-range CD59 reference sequences, based on a population approach, using a generalizable rationale for our choice. Correct long-range haplotypes are useful as template sequences for allele calling in high-throughput NGS and precision medicine approaches, thus enhancing the reliability of clinical diagnostics. Long-range haplotypes can also be used to evaluate the influence of genetic variation on the risk of transfusion reactions or diseases.

Research topics

  • Genomic variations and chromosomal abnormalities
  • Genetics and Neurodevelopmental Disorders
  • Genomics and Rare Diseases

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DOI: 10.1111/trf.17869

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