ArticleNucleic acids research2014
Locus Reference Genomic: reference sequences for the reporting of clinically relevant sequence variants.
Article in Nucleic acids research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
43 citing papers in PubMed, 76 citations in OpenAlex.
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- Variant interpretation: UCSC Genome Browser Recommended Track Sets.Human mutation · 2022Article
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- New insights on familial colorectal cancer type X syndrome.Scientific reports · 2022Article
- The value of primary transcripts to the clinical and non-clinical genomics community: Survey results and roadmap for improvements.Molecular genetics & genomic medicine · 2021Article
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- EMQN best practice guidelines for genetic testing in dystrophinopathies.European journal of human genetics : EJHG · 2020Article
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- Variation in nomenclature of somatic variants for selection of oncological therapies: Can we reach a consensus soon?Human mutation · 2020Article
- How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.Neurology · 2019Article
- Banking with precision: transfusion medicine as a potential universal application in clinical genomics.Current opinion in hematology · 2019Review
- Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.Journal of thrombosis and haemostasis : JTH · 2019Article
- Implementation of standardized variant-calling nomenclature in the age of next-generation sequencing: where do we stand?Leukemia · 2019Article
- Genenames.org: the HGNC and VGNC resources in 2019.Nucleic acids research · 2019Article
- The NF1 hotspot in acute myeloid leukemia: what's in a name?Leukemia · 2018Article
- ClinGen Allele Registry links information about genetic variants.Human mutation · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Locus Reference Genomic (LRG; http://www.lrg-sequence.org/) records contain internationally recognized stable reference sequences designed specifically for reporting clinically relevant sequence variants. Each LRG is contained within a single file consisting of a stable 'fixed' section and a regularly updated 'updatable' section. The fixed section contains stable genomic DNA sequence for a genomic region, essential transcripts and proteins for variant reporting and an exon numbering system. The updatable section contains mapping information, annotation of all transcripts and overlapping genes in the region and legacy exon and amino acid numbering systems. LRGs provide a stable framework that is vital for reporting variants, according to Human Genome Variation Society (HGVS) conventions, in genomic DNA, transcript or protein coordinates. To enable translation of information between LRG and genomic coordinates, LRGs include mapping to the human genome assembly. LRGs are compiled and maintained by the National Center for Biotechnology Information (NCBI) and European Bioinformatics Institute (EBI). LRG reference sequences are selected in collaboration with the diagnostic and research communities, locus-specific database curators and mutation consortia. Currently >700 LRGs have been created, of which >400 are publicly available. The aim is to create an LRG for every locus with clinical implications.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.