原文鏈接：Locus Reference Genomic sequences: an improved basis for describing human DNA variants
原文摘錄：
- Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specifi c purpose of gene variant reporting.（LRG是特意為基因變異的報(bào)告而設(shè)計(jì)的）
- We hope that widespread adoption of LRGs - which will be created and maintained by the NCBI and the European Bioinformatics Institute (EBI) - along with consistent use of the Human Genome Variation Society (HGVS)- approved variant nomenclature will reduce errors in the reporting of variants in the literature and improve communication about variants affecting human health.（廣泛采用LRG以及持續(xù)使用HGVS標(biāo)準(zhǔn)的變異命名，以降低變異報(bào)告的錯(cuò)誤率）
- However, the mitochondrial genome is explicitly excluded as its sequence (RefSeq NC_012920.1) and variation is already managed by MitoMap.（LRG明確不包含線粒體序列）
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