HGMD statistics

Tool stats & trends

Looking to identify usage trends or leading experts?

Protocols

HGMD specifications

Information


Unique identifier OMICS_00281
Name HGMD
Alternative name Human Gene Mutation Database
Restrictions to use License purchase required
Community driven No
Data access File download, Browse
User data submission Not allowed
Registration required Yes
Maintained Yes

Taxon


  • Primates
    • Homo sapiens

Maintainers


  • person_outline Peter D. Stenson
  • person_outline David Cooper

Publications for Human Gene Mutation Database

HGMD citations

 (437)
library_books

Computational identification and validation of alternative splicing in ZSF1 rat RNA seq data, a preclinical model for type 2 diabetic nephropathy

2018
Sci Rep
PMCID: 5955895
PMID: 29769602
DOI: 10.1038/s41598-018-26035-x

[…] ed transcripts is more than three times the number of annotated genes; for protein coding genes, this ratio increases to 7:1. It has also been reported that 50–60% of disease-causing mutations in the human gene mutation database affect splicing,. These findings have resulted in a growing interest in understanding alternative splicing patterns in disease. Moreover, targeting splicing regulatory pro […]

library_books

Incorporating epilepsy genetics into clinical practice: a 360°evaluation

2018
PMCID: 5945675
PMID: 29760947
DOI: 10.1038/s41525-018-0052-9

[…] 25 were called using the Strand NGS software. Rare or low frequency variants were evaluated in an internally developed pipeline. Included in this evaluation were literature and database searches like Human Gene Mutation Database (HGMD), Exome Aggregation Consortium (ExAC) database, the Genome Aggregation Database (gnomAD). Synonymous variants and variants in autosomal dominant genes which had been […]

library_books

Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients

2018
PMCID: 5944100
PMID: 29743074
DOI: 10.1186/s12931-018-0789-9

[…] NV database. In addition, the clinical significance of the sequences was annotated using Clinvar (http://www.ncbi.nlm.nih.gov/clinvar/), OMIM (http://omim.org/), Uniprot (http://www.uniprot.org/) and HGMD (http://www.hgmd.org). Variants with cutoff values greater than 0.6 in the dbscSNV database were defined as splice-altering. Other synonymous variants that did not fulfill the above mentioned con […]

library_books

VAReporter: variant reporter for cancer research of massive parallel sequencing

2018
BMC Genomics
PMCID: 5954270
PMID: 29764369
DOI: 10.1186/s12864-018-4468-5

[…] al databases, including dbSNP [], 1000 Genomes [], COSMIC, the Cancer Gene Census [], dbNSFP [], Clinvar [], OMIM [], RefSeq [], UniProt [], Pfam [], GO [], KEGG [], DrugBank [], the DGIdb [] and the Human Gene Mutation Database [] (HGMD), were compiled as local annotation databases to facilitate the interpretation of biological effects introduced by genetic alterations. A high-performance computi […]

library_books

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing impaired subjects

2018
BMC Med Genet
PMCID: 5941635
PMID: 29739340
DOI: 10.1186/s12881-018-0585-x

[…] Deafness Variation Database: http://deafnessvariationdatabase.org.ESP6500:http://evs.gs.washington.edu/EVS/Gene Marker: https://softgenetics.com/GeneMarker.phpHuman Gene Mutation Database: http://www.hgmd.cf.ac.uk/ac/index.phpMutation Taster: http://www.mutationtaster.org.NCBI: http://www.ncbi.nlm.nih.govNetGene 2 Server: http://www.cbs.dtu.dk/services/NetGene2NNSPLICE: http://www.fruitfly.org/seq […]

library_books

Delineation of the genetic and clinical spectrum of Phelan McDermid syndrome caused by SHANK3 point mutations

2018
Mol Autism
PMCID: 5921983
PMID: 29719671
DOI: 10.1186/s13229-018-0205-9

[…] rents or present in population controls (Additional file : Table S4). An inherited frameshift variant reported as pathogenic in two unrelated children with ASD [, ], and classified as damaging in the Human Gene Mutation Database, is in fact intronic when annotated in the correct reference sequence, NM_033517.1 [], and is present 173 times in gnomAD (chr22:g.51135705dupG, hg19). An inherited substi […]

Citations

Looking to check out a full list of citations?

HGMD institution(s)
School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, UK
HGMD funding source(s)
Supported by QIAGEN Inc. through a License agreement with Cardiff University.

HGMD reviews

star_border star_border star_border star_border star_border
star star star star star

Be the first to review HGMD