NO018.20190115.GenomeMedicine.Locus Reference Genomic sequences: an improved basis for describing...

原文链接：Locus Reference Genomic sequences: an improved basis for describing human DNA variants

原文摘录：

1. Here we present the Locus Reference Genomic (LRG) sequence format, which has been designed for the specifi c purpose of gene variant reporting.（LRG是特意为基因变异的报告而设计的）
2. 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.（广泛采用LRG以及持续使用HGVS标准的变异命名，以降低变异报告的错误率）
3. However, the mitochondrial genome is explicitly excluded as its sequence (RefSeq NC_012920.1) and variation is already managed by MitoMap.（LRG明确不包含线粒体序列）

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