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Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities

Chiara Di Resta1,2, Silvia Galbiati2, Paola Carrera2,3

  • 1Vita-Salute San Raffaele University, Milan, Italy.

EJIFCC
|May 17, 2018
PubMed

Keywords:
causative mutationscoveragediagnosticsgenetic medicinegeneticsincidental findingsinherited disordersnext generation sequencingsequence depthvariants interpretation

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