Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation
Current methods used for representing biological sequence variants allow flexibility, which has created redundancy within variant archives and discordance among variant representation tools. While research methodologies have been able to adapt to this ambiguity, strict clinical standards make it dif...
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Asıl Yazarlar: | , , , |
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Materyal Türü: | Metin |
Dil: | İngilizce |
Baskı/Yayın Bilgisi: |
American Medical Informatics Association
2020
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Konular: | |
Online Erişim: | https://pmc.ncbi.nlm.nih.gov/articles/PMC7153148/ https://pubmed.ncbi.nlm.nih.gov/32308920 |
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