Article
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.
Nucleic acids research - 1 Jan 2014
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
Abstract excerpt
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 regu...
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