Human Genome Variation Society Nomenclature Human Phenotype Ontology Human Variome Project International Cancer Genome Consortium International Rare Diseases Research Consortium Kaiser Permanente Research Program on Genes, Environment and Health Kaviar Locus Reference Genomic ...
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 existing variant nomenclature systems such as HGVS =-=[16]-=- and ISCN...
chimpanzee, orangutan and macaque genomes, we first assembled each genome from PacBio HiFi data (Supplementary Table1) using hifiasm24(v.0.16.1). The resulting PacBio HiFi contigs were aligned to the T2T-CHM13 reference genome4(v.2.0) using minimap250(v.2.24) with the following parameters: ...
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 ...
[27]). These databases have similar architecture, ontologies, and data elements allowing for interoperability and are curated by local experts. Over 700 LSDBs are maintained across the world and accessible at the Human Genome Variation Society website (http://www.hgvs.org/dblist/glsdb.html). ...
Nomenclature Issues in the Human Genome Project 来自 Semantic Scholar 喜欢 0 阅读量: 9 作者:MD Zorn,CR Cantor 摘要: The recent progress in biotechnology, in particular in techniques to manipulate the genetic molecule DNA, has led to probably the most exciting, and also much debated enterprise ...
Nomenclature according to the IMGT unique numbering for C-DOMAIN (2, 25) and IMGT Allele alignment Homo sapiens IGHG3 (http://www.imgt.org/IMGTrepertoire/Proteins/alleles/index.php?species=Homo%20sapiens&group=IGHC&gene=IGHG3). b Nomenclature adapted from Human Genome Variation Society (www....
APOB gene mutations are described according to mutation nomenclature (available on the Human Genome Variation Society Web site) (26, 27). Nucleotide numbers are derived from APOB cDNA sequence (GenBankTM accession number NM_000384). Amino acid sequence changes in apoB are described according to...
Medicine,Kyushu University,3-1-1 Maidashi, Higashi-ku, Fukuoka 812, Japan Key Words historical trends of human genetics, DNA technology, new classes of pathogenic mutation, human cancer genetics, ecogenetics (xenogenetics) The Japan Society of Human Genetics was established in June 1956 I l l...
High throughput sequencing methods have completely transformed the study of human Y chromosome variation by offering a genome-scale view on genetic variation retrieved from ancient human remains in context of a growing number of high coverage whole Y chromosome sequence data from living populations from...