We may need a new map to properly interpret our genome (IMAGE)
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“The whole genomes of twenty healthy Hungarians were compared with the GRCh38 reference genome. In all 20 cases, the automated analysis identified the same severe genetic variant, which was later found to be erroneous following expert curation based on additional, representative regions. In other words, none of them had a true medically relevant variant. “The study thus demonstrates an important bioinformatics vulnerability,” highlights Dr. Balázs Győrffy, Head of the Department of Bioinformatics at Semmelweis University and the other lead author of the paper.
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Boglárka Zellei - Semmelweis University, Budapest, Hungary
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