HGVS,全称是Human Genome Variation Society,即人类基因组变异协会的缩写。它制定了一套规则,告诉人们如何描述一个变异,以便于学术交流和计算机识别。 在命名时,需要在DNA、RNA和蛋白质三个层面描述同一个变异,这充分体现了此命名法则对变异本身功能性体现的考虑。 DNA转录为RNA,RNA翻译成蛋白质 让我们来看一下,基因...
HGVS,全称是Human Genome Variation Society,即人类基因组变异协会的缩写。它制定了一套规则,告诉人们如何描述一个变异,以便于学术交流和计算机识别。 在命名时,需要在DNA、RNA和蛋白质三个层面描述同一个变异,这充分体现了此命名法则对变异本身功能性体现的考虑。 DNA转录为RNA,RNA翻译成蛋白质 让我们来看一下,基因...
HGVS. Human Genome Variation Society, 2006; Retrieved Dec- ember 12, 2006 from http://www.genomic.unimelb.edu.au/mdi/Cotton RG , Horaitis O . 2000 . Human Genome Variation Society . In: CooperDN , editor. Nature encyclopedia of the human genome . London : Nature Publishing Group. p ...
To this end, the Human Genome Variation Society has developed an internationally recognized standard for describing variants at the DNA, RNA, and protein sequence levels, known as the HGVS nomenclature (https://hgvs-nomenclature.org/stable/). This standard is used to report variants in clinical r...
Sequencing data were compared to the Human Genome Database, and mutation naming followed the nomenclature recommended by the Human Genomic Variation Society (HGVS). In the proband in family A, p.Arg49His was inherited from his father (Fig. 1b, c). The codon Arg49 is conserved among ...
The affected transcript and protein were labeled NM_000264.3 (PTCH1_v001):c.426dup and NM_000264.3 (PTCH1_i001):p.(Thr143Tyrfs*12), respectively, using the Human Genome Variation Society (HGVS) nomenclature version 2.0 (Mutalyzer 2.0.beta-32, https://mutalyzer.nl/). The arrow indicates ...
normal tissue genotype/phenotype disconnects have clearly created questions regarding the practicality of relying on a single unique reference sequence as the definitive predictor of phenotype. The Human Genome Variation Society (HGVS) nomenclature committee has studied this issue (http://www.hgvs.org/...
Evidence and Conclusion Ontology HGVS: Human Genome Variation Society NCBI: National Center for Biotechnology Information VUS: Variant of uncertain (or unknown) significance References Moynahan ME, Chiu JW, Koller BH, Jasin M. Brca1 controls homology-directed DNA repair. Mol Cell. 1999;4(4...
of three international organizations: the Human Genome Variation Society (HGVS), the Human Variome Project (HVP), and the Human Genome Organization (HUGO)... JT Den Dunnen,R Dalgleish,DR Maglott,... - 《Human Mutation》 被引量: 0发表: 2016年 Recommendations for locus﹕pecific databases an...
(gene and protein level), it was also evaluated if data were presented in accordance to the terminology proposed by the Human Genome Variation Society (HGVS). Similarly, statements on estimated pathogenicity were expected to adhere to the five-tier classification system recommended by the American ...