Sentence examples for variation database for from inspiring English sources
Over 100 different mutations have been reported in the Leiden Open Variation Database for almost 200 patients (www.dmd.nl).nl
As the first human genetic variation database for RA, RAvariome aims to provide a reliable set of RA risk variants that was systematically assessed according to its reproducibility.
We developed a variation database for Mendelian disorders and associated WES analysis pipeline, in order annotate and store insertions, deletions and single nucleotide variants found in targeted resequencing projects, with a focus on patients affected by Mendelian disorders.
Lines 1 to 3 load the library and connect to the Core and Variation databases for human release 60.
Ensembl produces variation databases for a subset of the genomes available in Ensembl (first two columns of Table 1).
The approach described here extends the application of variation databases for the detection of contaminating cells in RNA-seq studies using heterozygous SNPs.
Results: The JEnsembl API implementation provides basic data retrieval and manipulation functionality from the Core, Compara and Variation databases for all species in Ensembl and EnsemblGenomes and is a platform for the development of a richer API to Ensembl datasources.
We summarize all published variants found in VPS33B and VIPAR to date in a Leiden Open-Source Variation Database (LOVD) for ARC and report 15 novel mutations in VPS33B and five in VIPAR.
Integration of SNP and structural variation databases allows for robust primer design for a variety of PCR applications, irrespective of the sequence complexity in the region of interest.
Twelve of the SNPs that were not listed in the Ensemble variation database were randomly selected for validation by Sanger sequencing.
Linking population and ethnic-specific information into LSDBs and diagnostic databases, creating NEMDBs and developing genomic databases, similar to the Indian Genome Variation database are key activities for the main GEN2PHEN work packages.
