Novel format for gene variant reporting

The Locus Reference Genomic (LRG) sequence format, recently reported in Genome Medicine, allows a single fixed record containing a reference DNA sequence and all relevant transcripts and protein sequences to be associated with an updateable layer of gene variant coordinates, which should reduce errors in reporting and lead to improved communication about genomic variants.

this month stated that the LRG agreement has provided a platform which allows the editors to adjust journal policy, mandating the use of Human Genome Variation Society (HGVS) allele naming conventions in manuscripts submitted to Nature Genetics.

Dalgleish and colleagues propose that variants associated with human genetic disease can be documented using this format, which was designed for the specific purpose of gene variant reporting and which builds upon the NCBI RefSeqGene project.  LRG records will have long-term stability, being created and maintained by the NCBI and the EBI, as well as flexibility, which will allow their use as an up-to-date reference for clinical genetic tests even as more disease variants are discovered. 

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