gene namedatabaseHGNCThe HUGO Gene Nomenclature Committee (HGNC) was founded in 1977 to provide a single worldwide authority to assign standardized human gene symbols, and remains one of the essential components of human gene and genome management. The HGNC has two overriding goals: providing a ...
foundintheGenewdatabase[7].ThephilosophyoftheHGNCremains“thatgenenomen-clatureshouldevolvewithnewtechnologyratherthanberestrictiveassometimesoccurswhenhistoricalandsinglegenenomenclaturesystemsareapplied”[2].Asummaryoftheguidelinesispresentedhere:1.Eachapprovedgenesymbolmustbeunique.2.Symbolsareshort-form...
A nomenclature system for the tree of human Y-chromosomal binary haplogroups. Genome Res. 12, 339–348 (2002). de Knijff, P. Messages through bottlenecks: on the combined use of slow and fast evolving polymorphic markers on the human Y chromosome. Am. J. Hum. Genet. 67, 1055–1061 (...
mutation description as HGVS nomenclature or genomic coordinates. • In case you have a certain reference and like to know if and which mutations have been captured from this reference in HGMD ® Professional enter either PubMed ID, First Author, PubMed Journal, Year, or Gene Symbol at ...
More than two hundred papers have reported genome-wide data from ancient humans. While the raw data for the vast majority are fully publicly available testifying to the commitment of the paleogenomics community to open data, formats for both raw data and
It is the style of Human Biology to use the Human Gene Mapping Workshop nomenclature for genetic systems. This nomenclature system and its terminology are explained by Shows et al. in their article “Guidelines for Human Gene Nomenclature: An International System for Human Gene Nomenclature (ISGN...
Gene productAlternative designationsGene name Factor XIII a-subunit Factor XIII a and plasma transglutaminase F13A1 TGK Keratinocyte transglutaminase and transglutaminase type 1 TGM1 TGC Tissue transglutaminase, transglutaminase type 2, and Gαh TGM2 TGE Epidermal transglutaminase and transglutaminase type 3...
The gene segments are grouped as subfamilies and are shown together with the first digit of their allele name. Links indicated the relative frequencies of specific VDJ combinations, and wider links indicate higher frequencies of recombination. The relative CDRH3 length (c), P and N nucleotide ...
Consensus Conference on Management of Intersex Disorders, convened by the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE), coined the term DSD and laid out the current framework for nomenclature, diagnosis and interdisciplinary management of...
genenames.org: the HGNC resources in 2011 The HUGO Gene Nomenclature Committee (HGNC) aims to assign a unique gene symbol and name to every human gene. The HGNC database currently contains almost 3... RL Seal,SM Gordon,MJ Lush,... - 《Nucleic Acids Research》 被引量: 1111发表: 2011年...