Results 1 to 10 of about 145 (101)

The importance of being the HGNC

open access: yesHuman Genomics, 2022
The HUGO Gene Nomenclature Committee (HGNC) has been providing standardized symbols and names for human genes since the late 1970s. As funding agencies change their priorities, finding financial support for critical biomedical resources such as the HGNC ...
Elspeth A Bruford   +2 more
exaly   +5 more sources

Gene family matters: expanding the HGNC resource [PDF]

open access: yesHuman Genomics, 2012
The HUGO Gene Nomenclature Committee (HGNC) assigns approved gene symbols to human loci. There are currently over 33,000 approved gene symbols, the majority of which represent protein-coding genes, but we also name other locus types such as non-coding ...
Ruth L Seal   +2 more
exaly   +5 more sources

Genenames.org: the HGNC and VGNC resources in 2021 [PDF]

open access: yesNucleic Acids Research, 2020
Abstract 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 42,000 approved gene symbols in our current database of which over 19 000 are for protein-coding genes. While we still update placeholder and problematic symbols,
Susan Tweedie   +6 more
openaire   +2 more sources

Genenames.org: the HGNC resources in 2023

open access: yesNucleic Acids Research, 2022
Abstract The HUGO Gene Nomenclature Committee (HGNC) assigns unique symbols and names to human genes. The HGNC database (www.genenames.org) currently contains over 43 000 approved gene symbols, over 19 200 of which are assigned to protein-coding genes, 14 000 to pseudogenes and nearly 9000 to non-coding RNA genes.
Ruth L. Seal   +6 more
openaire   +2 more sources

HGNChelper: identification and correction of invalid gene symbols for human and mouse [version 2; peer review: 3 approved]

open access: yesF1000Research, 2022
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 (
Marcel Ramos   +7 more
doaj   +1 more source

Genenames.org: the HGNC resources in 2015 [PDF]

open access: yesNucleic Acids Research, 2014
The HUGO Gene Nomenclature Committee (HGNC) based at the European Bioinformatics Institute (EMBL-EBI) assigns unique symbols and names to human genes. To date the HGNC have assigned over 39,000 gene names and, representing an increase of over 5000 entries in the past two years.
Kristian A. Gray   +4 more
openaire   +2 more sources

HIPERGLICINEMIA NONCETONICÅ [PDF]

open access: yesRomanian Journal of Pediatrics, 2011
Hiperglicinemia noncetonică (HGNC) este o boală genetică a metabolismului glicinei, în care se acumulează cantităţi crescute de glicină în toate ţesuturile, inclusiv în creierul.
Ioan Oprea   +3 more
doaj   +1 more source

genenames.org: the HGNC resources in 2011 [PDF]

open access: yesNucleic Acids Research, 2010
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 30,000 approved gene symbols, over 19,000 of which represent protein-coding genes. The public website, www.genenames.org, displays all approved nomenclature within Symbol Reports that contain data ...
Ruth L. Seal   +4 more
openaire   +2 more sources

Caracterización clínica, bioquímica e imagenológica en una cohorte de pacientes diagnosticados con hiperglicinemia no cetósica clásica: estudio ambispectivo 2000-2014, Medellín, Colombia

open access: yesActa Neurológica Colombiana, 2023
Introducción: La hiperglicinemia no cetósica (HGNC) es un error innato del metabolismo del grupo de las aminoacidopatías, de carácter autosómico recesivo, causado por un defecto en el sistema de clivaje de la glicina.
Juliana Trujillo Gómez   +5 more
doaj   +1 more source

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

open access: yesNucleic 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   +7 more
openaire   +2 more sources

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