HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Quantitative profiling of the UGT transcriptome in human drug-metabolizing tissues

“…Seventeen of the 22 human UGT transcripts encoding canonical and functional enzymes (referred to as v1 transcripts according to Human Genome Variation Society HGVS nomenclature) 14 were substantially expressed (> 2 FPKM) in at least one of the three tissue examined ( Fig.3; Table S1). Highest expression was measured in the normal liver and especially for UGT2B genes (> 400 FPKM for UGT2B4, UGT2B7, UGT2B10 and UGT2B15).…”

Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines

“…when genomic DNA is sequenced, a genomic DNA sequence is the preferred reference and (by inference) when a protein sequence is reported, an amino acid sequence is the preferred reference. The working group further recommends the use of the recently introduced Locus Reference Genomic sequence (LRG) (http://www.lrg-sequence.org/; the LRG collaboration maintains and creates LRGs [6].…”

<i>SIRT1</i> gene polymorphisms associated with carcass traits in Luxi cattle

“…1). The nomenclature adopted for the SNPs was based on the convention described by the Human Genome Variation Society (Den Dunnen et al, 2016). No SNPs were found in the coding sequence from the set of animals used in this study.…”