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Standard nomenclature was used for describing variants (www.hgvs.org), and the locus reference genomic sequence LRG_274 for LDLR was used.
Reference sequences for the MLH1, MSH2 and MSH6 genes were NM_000249.3, NM_000251.1 and NM_000179.2, respectively, as mentioned in the Locus Reference Genomic database.
There are also projects at European Bioinformatics Institute (EBI) and National Center for Biotechnology Information (NCBI) to develop reference sequences, locus reference genomics (LRGs) (http://www.lrg-sequence.org) and RefSeqGenes (http://www.ncbi.nlm.nih.gov/projects/RefSeq/RSG/), respectively.
The reference sequence should be complete and derived from either the NCBI RefSeq database (http://www.ncbi.nlm.nih.gov/RefSeq/) with the version number or the Locus Reference Genomic (LRG) database (http://www.lrg-sequence.org).org
These LRG (Locus Reference Genomic) sequences can be used as a framework for data exchange of annotated disease variants currently stored in diagnostic laboratories and LSDBs (Locus-Specific Databases).
CNV: copy number variation; EBI: European Bioinformatics Institute; GEN2PHEN: Genotype-To-Phenotype Databases Project; HGVS Human Genome Variation Society LOVDVD: Leiden Open Variation Database; LRG: Locus Reference Genomic; LSDB: Locus-specific Database; NCBI: National Center for Biotechnology Information.
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Single copy loci reference gene measurements were also compared with the multicopy genomic repeat ALUJ.
In addition to the targeted nuclear loci, reference-guided assembly of the off-target reads yielded complete or nearly complete plastome and nrDNA cistron sequences (Table 2).
In our implementation of dominant coding over multiple loci, the reference multi-locus genotype consists solely of diplotypes of the most common haplotype.
Outlier loci in reference-reference pairwise comparisons likely reflect genetic drift although some may be due to selection.
Whitehead maintains that events in the world have a specific locus with reference to God, but God has no locus with reference to the world (Johnson 1983, 9).
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