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|Restrictions to use||Academic or non-commercial use|
|Database management system||MySQL|
|User data submission||Allowed|
- person_outline Geert Vandeweyer
Publication for VariantDB
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor
[…] ed pipeline, followed by variant calling with the Genome Analysis Toolkit Unified Genotyper (DePristo et al., ). Variants were subsequently annotated and filtered with the in-house developed database VariantDB (Vandeweyer et al., ), which uses ANNOVAR. Heterozygous coding or splice site (±2 bp from exon-intron boundaries for nucleotide substitution, and ±5 bp for multi-bp deletions or insertions) […]
A Robust Protocol to Increase NimbleGen SeqCap EZ Multiplexing Capacity to 96 Samples
[…] ATK v.2.8.1 indel realignment and base quality recalibration [, ]. Variants were called with GATK Unified Genotyper after which annotation, filtering and interpretation of the variants was done using VariantDB . […]
A SWI/SNF related autism syndrome caused by de novo mutations in ADNP
[…] Penzberg, Germany), and sequencing on HiSeq 2000 (Illumina Inc, San Diego, CA, USA), all following standard protocols. Data analysis was performed using Galaxy (see URLs)-. Variants were filtered by VariantDB (see URLs, manuscript in preparation) to exclude variants with (1) low quality, using thresholds based on correlation between NGS data and SNP-chip genotyping; (2) intronic or intergenic loc […]
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