LRG sequences provide a stable genomic DNA framework for reporting variants with a permanent ID and core content that never changes.
http://dev.lrg-sequence.org/
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Locus Reference Genomic – LRG sequences provide a stable genomic DNA framework for reporting variants with a permanent ID and core content that never changes. | dev.lrg-sequence.org Reviews
https://dev.lrg-sequence.org
LRG sequences provide a stable genomic DNA framework for reporting variants with a permanent ID and core content that never changes.
dev.lrg-sequence.org
Submit variants – Locus Reference Genomic – LRG sequences provide a stable genomic DNA framework for reporting variants with a permanent ID and core content that never changes.
http://dev.lrg-sequence.org/submit-variants
Stable reference sequences for reporting variants. Consistent with the goals of the LRG collaboration, we offer the opportunity to submit information about variants to dbSNP. As appropriate, and obtain an accession number for each variant. The results will be returned to you as outlined in the instructions. The minimum information you need to report for each mutation is:. The mutation description in HGVS nomenclature. Preferably using a LRG record as reference sequence. Whether the mutation is somatic.
About – Locus Reference Genomic – LRG sequences provide a stable genomic DNA framework for reporting variants with a permanent ID and core content that never changes.
http://dev.lrg-sequence.org/about
Stable reference sequences for reporting variants. An LRG is a manually curated record that contains stable and thus, un-versioned reference sequences designed specifically for reporting sequence variants with clinical implications. Each LRG contains a stable fixed. Section and a regularly updated updatable. Stable genomic DNA sequence for the region of interest. Transcripts and proteins deemed essential for reporting variants. Exon numbering system that is LRG-specific. Collaborators (for example, LSDB ...
LRG collaborators – Locus Reference Genomic – LRG sequences provide a stable genomic DNA framework for reporting variants with a permanent ID and core content that never changes.
http://dev.lrg-sequence.org/lrg-collaborators
Stable reference sequences for reporting variants. Each LRG is created upon request by collaborators such as research and diagnostic laboratories, LSDB (locus specific database) curators and mutation consortia. To ensure that each LRG record contains the most appropriate reference sequences for reporting variants in the requested region, requesters are asked to provide details of other collaborators with expertise in the LRG region or field of interest. NIH’s Genetic Testing Registry (GTR). ARUP Laborato...
Update of LRG records – Locus Reference Genomic – LRG sequences provide a stable genomic DNA framework for reporting variants with a permanent ID and core content that never changes.
http://dev.lrg-sequence.org/update-lrg-records
Stable reference sequences for reporting variants. Update of LRG records. The updatable section of each LRG has now been regenerated to contain the most up-to-date information available from NCBI and Ensembl (Ensembl release 75, GRCh37 primary assembly) for the given LRG region. The fixed section remains unchanged. It is our goal to update the updatable section twice a year. The next update will take place in October 2014. Written on May 7, 2014. Site maintained by EMBL-EBI.
Downloads – Locus Reference Genomic – LRG sequences provide a stable genomic DNA framework for reporting variants with a permanent ID and core content that never changes.
http://dev.lrg-sequence.org/downloads
Stable reference sequences for reporting variants. LRG data is available on the LRG FTP site. The LRG genomic, transcript and protein sequences are also available in FASTA format. On the LRG FTP site. There is the possibility to download all the public and pending LRGs:. If you can’t access to the LRG FTP site through the FTP protocol, you can access it using the HTTP protocol: LRG FTP site - HTTP. Files location by assembly. The file contains 4 tracks:. LRG identifier (e.g. LRG 1). The list of LRGs alre...
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Locus Reference Genomic – LRG sequences provide a stable genomic DNA framework for reporting variants with a permanent ID and core content that never changes.
Stable reference sequences for reporting variants. A Locus Reference Genomic (LRG) record contains stable reference sequences for reporting sequence variants with clinical implications. LRG are manually curated, have permanent identifiers and core content that never changes. Read about. LRG records in several formats (XML, FASTA, BED). Access programmatically through web services. Check the progress of pending LRG records undergoing curation. Why use LRGs for variant reporting? Integrated into the Ensembl.
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