Meeting abstract
https://doi.org/10.26800/LV-145-supl2-CR48
Innovative Whole Genome Joint Analysis – case report of early diagnosis and preventive approach to HFE Hemochromatosis
Marjan Kulaš
; School of Medicine, University of Zagreb, Zagreb, Croatia
Dina Gržan
Sandro Kukić
Luka Lovrenčić
Mario Ćuk
Abstract
Whole Genome Joint Analysis is an innovative method to elucidate the full spectrum of genome complexities and alterations in the family
members, comprehensively and unbiasedly. Once identified in the preclinical phase of the disease, causative variants can anticipate a personalized preventive approach and medical treatment.
Keywords
Genetic Variations; Primary Hemochromatosis; Whole Genome Sequencing
Hrčak ID:
303903
URI
Publication date:
23.4.2023.
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