Locus Reference Genomic (LRG)
sequences are manually curated, stable DNA sequences that surround a
locus (typically a gene) and provide an unchanging coordinate system
for reporting sequence variants. They are not necessarily identical
to the corresponding sequence in a particular reference genome
assembly (such as Feb. 2009 (GRCh37/hg19)), but can be mapped to each version of a
reference genome assembly in order to convert between the stable LRG
variant coordinates and the various assembly coordinates.
Each LRG record also includes at least one stable transcript
on which variants may be reported. These transcripts
appear in the LRG Transcripts track in the Gene Predictions
LRG sequences are suggested by the community studying a locus (for example,
Locus-Specific Database curators, research laboratories, mutation consortia).
LRG curators then examine the submitted transcript as well as other known
transcripts at the locus, in the context of alignment and public expression
For more information on the selection and annotation process, see the
(Dalgleish, et al.) and (MacArthur, et al.).
Dalgleish R, Flicek P, Cunningham F, Astashyn A, Tully RE, Proctor G, Chen Y, McLaren WM, Larsson P,
Vaughan BW et al.
Locus Reference Genomic sequences: an improved basis for describing human DNA variants.
Genome Med. 2010 Apr 15;2(4):24.
PMID: 20398331; PMC: PMC2873802
MacArthur JAL, Morales J, Tully RE, Astashyn A, Gil L, Bruford EA, Larsson P,
Flicek P, Dalgleish R, Maglott DR, Cunningham F.
Locus Reference Genomic: reference sequences for the reporting of
clinically relevant sequence variants.
2014 Jan 1;42(D1):D873-D878.
PMID: 24285302; PMC: PMC3965024
This track was produced at UCSC using
LRG XML files.
for making these data available.