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Molecular diagnosis of α-thalassemia in a multiethnic population.

Oded GiladOrna Steinberg ShemerOrly DganyTanya KrasnovMichal NevoSharon Noy-LotanRon RabinowiczNofar AmitaiShifra Ben-DorIsaac YanivJoanne YacobovichHannah Tamary
Published in: European journal of haematology (2017)
Our work constitutes the largest group of patients with α-thalassemia originating in the Mediterranean whose clinical characteristics and molecular basis have been determined. We suggest a diagnostic algorithm that leads to an accurate molecular diagnosis in multiethnic populations.
Keyphrases
  • sickle cell disease
  • machine learning
  • deep learning
  • single molecule
  • high resolution
  • genetic diversity