HVDB specifications


Unique identifier OMICS_22116
Alternative name Human Variation Database
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes

HVDB citations


Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature

PMCID: 5687980
PMID: 29158767
DOI: 10.3345/kjp.2017.60.10.327

[…] chnologies, Grand Island, NY, USA). Seqscape software version 2.7 (Applied Biosystems) was used for base-calling and mutation detection. All SHOX variants reported in this study were submitted to the Human Variation Database of the National Center for Biotechnology Information. […]


A Modified Method for Whole Exome Resequencing from Minimal Amounts of Starting DNA

PLoS One
PMCID: 3293839
PMID: 22403682
DOI: 10.1371/journal.pone.0032617

[…] o the human genome (hg19) was performed using BWA and variants assigned using the Unified Genotyper within the Broad Institute Genome Analysis Toolkit (GATK) version 1.0.5273 , . We used the Ensembl human variation database version 56 and the Ensembl Perl API system (http://www.ensembl.org/info/docs/api/index.html) to assign candidate functions to variants. […]

HVDB funding source(s)
Supported by the Japan science and Technology Agency.

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