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

原文摘錄：

1. Accurate and unambiguous annotation of disease-causing variants is essential. Central to this is the reference DNA sequence with respect to which a variant is reported.
2. Specifically designed for the reporting of diagnostically relevant variants, an LRG provides a stable reference sequence record for a particular genomic locus: genomic DNA, transcript and protein sequences are all included in one record, thereby providing a concise ‘one-stop’ record for variant reporting in all coordinates.（一條記錄同時(shí)包含基因組DNA序列、轉(zhuǎn)錄本序列以及蛋白序列）
3. The sequences defined by an LRG accession will never change.（LRG中的ID永不改變）
4. Mapping of the LRG to current and previous genome assemblies is included in the LRG record, thus overcoming difficulties for the user associated with updates to the genome assembly.（LRG序列與基因組的比對(duì)信息也被收錄在了LRG記錄中）
5. LRG records are created in response to requests from members of the community.（先提出需求，然后才創(chuàng)建記錄）
6. Any collaborators with significant involvement in the selection of reference sequences for inclusion in the LRG are asked if they would like to be added as an additional requester.（不斷擴(kuò)大requester數(shù)量，以方便更多需求的提出，以完善LRG）
7. Most LRG genomic sequences extend 5 kb upstream of the first exon and 2 kb downstream of the last exon, or to the extent necessary to cover all relevant components (i.e. promoters or other regulatory elements).
8. poly-A tails are removed from all LRG transcripts.
9. 每一個(gè)LRG序列都有對(duì)應(yīng)的相應(yīng)版本的RefSeq和RefSeqGene序列，如果待創(chuàng)建的LRG序列沒有對(duì)應(yīng)的RefSeq序列的話，根據(jù)請(qǐng)求，RefSeq Curators會(huì)先創(chuàng)建該序列，然后LRG再創(chuàng)建！因此，LRG序列與RefSeq之間的變異坐標(biāo)轉(zhuǎn)換是非常簡(jiǎn)單的！
10. Currently, all LRGs created have been for genic loci; however, they can be created for any locus with clinical implications.
11. As the project aims to reduce ambiguity, only transcripts that are well characterized and are deemed by the community to be essential for variant reporting are included. In practice this means that the majority of LRGs only have one transcript.（標(biāo)準(zhǔn)嚴(yán)苛，不輕易放行）
12. In rare cases, the collaborators have requested to use an idealized transcript, for example, containing all exons of the gene, as the reporting standard, even though the existence of such a transcript is not supported by biological evidence. Examples of such cases are described in the Supplementary Data. In such cases, the proposed sequences are also reviewed by RefSeq curators and a corresponding RefSeq transcript created.（對(duì)其中一種特殊情況的闡述：還是要先經(jīng)過RefSeq的review，審核通過并添加了相應(yīng)的轉(zhuǎn)錄本后，才會(huì)在LRG中添加該轉(zhuǎn)錄本）
13. The long-term goal of the LRG project is to create an LRG record for every clinically relevant locus.
14. HGVS-compliant variant descriptions based on the LRG will be added to ClinVar to support searching and reporting.
15. Should the need arise in the future to create multiple LRGs for the same locus, these will have different accession numbers, rather than versions of the same accession number. Therefore, this will eliminate the ambiguity caused by versioning in variant reporting.（不同的ID，而不是相同ID的不同version）
16. Once the review process is complete, a pending LRG is made public and requesters are notified. From this point, sequences included in the fixed section will not change. Additional transcripts can be added to the fixed section of a public LRG in the future should this be necessary for reporting variants at the locus.（一旦狀態(tài)由pending更新為public之后，fixed部分的信息將不允許被修改。但是由于報(bào)告變異的需要而新增新的轉(zhuǎn)錄本，這是允許的?。?/li>
17. LRGs are established to provide a consistent reporting framework. Because of this policy, should an error in an LRG sequence be identified after release, the sequence in the LRG will not be changed.（這句話每臺(tái)讀懂，是不是說除非發(fā)現(xiàn)了錯(cuò)誤，否則序列不會(huì)改變？）