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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Kaydedildi:
Detaylı Bibliyografya
Asıl Yazarlar: Watkins, Michael, Rynearson, Shawn, Henrie, Alex, Eilbeck, Karen
Materyal Türü: Metin
Dil:İngilizce
Baskı/Yayın Bilgisi: American Medical Informatics Association 2020
Konular:
Online Erişim:https://pmc.ncbi.nlm.nih.gov/articles/PMC7153148/
https://pubmed.ncbi.nlm.nih.gov/32308920
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