Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants

Locus Reference Genomic (LRG; http://www.lrg-sequence.org/) records contain internationally recognized stable reference sequences designed specifically for reporting clinically relevant sequence variants. Each LRG is contained within a single file consisting of a stable ‘fixed’ section and a regular...

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Hlavní autoři: MacArthur, Jacqueline A. L., Morales, Joannella, Tully, Ray E., Astashyn, Alex, Gil, Laurent, Bruford, Elspeth A., Larsson, Pontus, Flicek, Paul, Dalgleish, Raymond, Maglott, Donna R., Cunningham, Fiona
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2014
Témata:
V. Human genome, model organisms, comparative genomics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3965024/
https://ncbi.nlm.nih.gov/pubmed/24285302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkt1198
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