HVDB specifications

Information


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

HVDB citations

 (2)
library_books

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

2017
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. […]

library_books

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

2012
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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