Results 21 to 30 of about 13,098 (176)

Size distribution of function-based human gene sets and the split–merge model [PDF]

Royal Society Open Science, 2016
The sizes of paralogues—gene families produced by ancestral duplication—are known to follow a power-law distribution. We examine the size distribution of gene sets or gene families where genes are grouped by a similar function or share a common property.
Wentian Li, Oscar Fontanelli, Pedro Miramontes   +2 more
doaj   +1 more source

Genenames.org: the HGNC and VGNC resources in 2019 [PDF]

Nucleic Acids Research, 2018
The HUGO Gene Nomenclature Committee (HGNC) based at EMBL's European Bioinformatics Institute (EMBL-EBI) assigns unique symbols and names to human genes. There are over 40 000 approved gene symbols in our current database of which over 19 000 are for protein-coding genes.
Bryony Braschi, Paul Denny, Kristian Gray, Tamsin Jones, Ruth Seal, Susan Tweedie, Bethan Yates, Elspeth Bruford   +7 more
openaire   +2 more sources

Genenames.org: the HGNC and VGNC resources in 2017 [PDF]

Nucleic Acids Research, 2016
The HUGO Gene Nomenclature Committee (HGNC) based at the European Bioinformatics Institute (EMBL-EBI) assigns unique symbols and names to human genes. Currently the HGNC database contains almost 40 000 approved gene symbols, over 19 000 of which represent protein-coding genes. In addition to naming genomic loci we manually curate genes into family sets
Bethan Yates, Bryony Braschi, Kristian A. Gray, Ruth L. Seal, Susan Tweedie, Elspeth A. Bruford   +5 more
openaire   +2 more sources

NET-GE: a novel NETwork-based Gene Enrichment for detecting biological processes associated to Mendelian diseases [PDF]

, 2015
Enrichment analysis is a widely applied procedure for shedding light on the molecular mechanisms and functions at the basis of phenotypes, for enlarging the dataset of possibly related genes/proteins and for helping interpretation and prioritization of ...
Casadio, Rita, Di Lena, Pietro, Fariselli, Piero, Martelli, Pier Luigi   +3 more
core   +8 more sources

Comment on Herring et al. The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations. Cells 2022, 11, 1044

Cells, 2022
This commentary is written in response to the recent article from Herring et al., discussing the eradication of the offensive term “retardation” from gene nomenclature.
Elspeth Bruford, on behalf of the HUGO Gene Nomenclature Committee (HGNC)   +1 more
doaj   +1 more source

HGNChelper: identification and correction of invalid gene symbols for human and mouse [version 1; peer review: 2 approved, 1 approved with reservations]

F1000Research, 2020
Gene symbols are recognizable identifiers for gene names but are unstable and error-prone due to aliasing, manual entry, and unintentional conversion by spreadsheets to date format. Official gene symbol resources such as HUGO Gene Nomenclature Committee (
Sehyun Oh, Jasmine Abdelnabi, Ragheed Al-Dulaimi, Ayush Aggarwal, Marcel Ramos, Sean Davis, Markus Riester, Levi Waldron   +7 more
doaj   +1 more source

A review of the new HGNC gene family resource [PDF]

Human Genomics, 2016
The HUGO Gene Nomenclature Committee (HGNC) approves unique gene symbols and names for human loci. As well as naming genomic loci, we manually curate genes into family sets based on shared characteristics such as function, homology or phenotype. Each HGNC gene family has its own dedicated gene family report on our website, www.genenames.org .
Gray, Kristian A, Seal, Ruth L, Tweedie, Susan, Wright, Mathew W, Bruford, Elspeth A   +4 more
openaire   +2 more sources

Polymorphisms in NQO1 and MPO genes and risk for bladder cancer in Tunisian population

Molecular Genetics & Genomic Medicine, 2021
Background NAD (P) H: quinone oxidoreductase (1) (NQO1‐HGNC: 2874) and myeloperoxidase (MPO‐HGNC: 7218) are two enzymes involved in phase II of the xenobiotic metabolism pathway. Methods In this study, a case–control analysis was conducted to investigate
Imen Hemissi, Haroun Ayed, Zeineb Naimi, Khedija Meddeb, Mouna Ayadi, Skander Zouari, Selim Zaghbib, Emna Talbi, Mohamed Chebil, Slah Ouerhani   +9 more
doaj   +1 more source

Gene Updater: a web tool that autocorrects and updates for Excel misidentified gene names

Scientific Reports, 2022
Opening and processing gene expression data files in Excel runs into the inadvertent risk of converting gene names to dates. As pathway analysis tools rely on gene symbols to query against pathway databases, the genes that are converted to dates will not
Clara W. T. Koh, Justin S. G. Ooi, Gabrielle L. C. Joly, Kuan Rong Chan   +3 more
doaj   +1 more source

Selenoprotein gene nomenclature [PDF]

, 2016
The human genome contains 25 genes coding for selenocysteine-containing proteins (selenoproteins). These proteins are involved in a variety of functions, most notably redox homeostasis.
Arn\ue9r, Elias S., Berry, Marla J., Bruford, Elspeth A., Burk, Raymond F., Carlson, Bradley A., Castellano, Sergi, Chavatte, Laurent, Conrad, Marcus, Copeland, Paul R., Diamond, Alan M., Driscoll, Donna M., Ferreiro, Ana, Floh\ue9, Leopold, Gladyshev, Vadim N, Green, Fiona R., Guig\uf3, Roderic, Handy, Diane E., Hatfield, Dolph L., Hesketh, John, Hoffmann, Peter R., Holmgren, Arne, Hondal, Robert J., Howard, Michael T., Huang, Kaixun, K\uf6hrle, Josef, Kim, Hwa Young, Kim, Ick Young, Krol, Alain, Kryukov, Gregory V., Lee, Byeong Jae, Lee, Byung Cheon, Lei, Xin Gen, Lescure, Alain, Liu, Qiong, Lobanov, Alexei V., Loscalzo, Joseph, Maiorino, Matilde, Mariotti, Marco, Prabhu, K. Sandeep, Rayman, Margaret P., Regina, Brigelius Floh\ue9, Rozovsky, Sharon, Salinas, Gustavo, Schmidt, Edward E., Schomburg, Lutz, Schweizer, Ulrich, Simonovi\u107, Miljan, Sunde, Roger A., Tsuji, Petra A., Tweedie, Susan, Ursini, Fulvio, Whanger, Philip D., Zhang, Yan   +52 more
core   +3 more sources