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...
将基因突变的结果更好地转化为实际临床应用,统一而通用的突变命名规则就显得尤为重要。人类基因组变异协会(HGVS:Human Genome Variation Society)规则是目前学术界所公认的命名规则。 从不同的维度出发,相同的基因突变可以有多种不同的表现形式,例如,参考序列的不同、表现层次的不同(DNA、RNA或者蛋白质水平)都会导致...
Cotton RGH, Horaitis O (2000) Human Genome Variation Society. eLS.Horaitis O: Human Genome Variation Society - RGH () Citation Context ... a community supported format that uses established ontologies such as the Sequence Ontology [15] to describe the variant data. GVF does not replace ...
Human Genome Variation is an open-access, online-only peer-reviewed journal publishing important discoveries, observations and analysis about research on the human genome, including a searchable online database of genome variants.
Welcome to the Human Genome Variation online manuscript submission and tracking system. Please be sure that your browser is set to accept cookies, as our tracking system requires them for proper operation. Authors should be sure to read our information onhow to submit. ...
The properties of the human Y chromosome – namely, male specificity, haploidy and escape from crossing over — make it an unusual component of the genome, and have led to its genetic variation becoming a key part of studies of human evolution, population history, genealogy, forensics and male...
Google Share on Facebook Hugo (redirected fromHuman Genome Organization) Thesaurus Medical Acronyms Encyclopedia Hu·go (hyo͞o′gō, ü-gō′),Victor Marie1802-1885. French writer who went into exile after Napoleon III seized power (1851), returning to France in 1870. His novels includeThe ...
iMETHYL: an integrative database of human DNA methylation, gene expression, and genomic variation Shohei Komaki Yuh Shiwa Atsushi Shimizu Data ReportOpen Access29 Mar 2018 Novel compound heterozygous variants in theLARP7gene in a patient with Alazami syndrome ...
Human Genome Variationis an online, fully Open Access Journal. The HGV Database is available on the internet and free for all to access and search. What is Open Access and what is NPG’s Open Access policy? For questions about NPG’s Open Access policy, please go to the ‘Open Access ...
(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 ...