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Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

Andrew Stubbs, Elizabeth A McClellan, Sebastiaan Horsman, Saskia D Hiltemann, Ivo Palli, Stephan Nouwens, Anton HJ Koning, Frits Hoogland, Joke Reumers, Daphne Heijsman, Sigrid Swagemakers, Andreas Kremer (+3 others)
2012 Journal of Clinical Bioinformatics  
genome reference data to minimize false positives variants prior to candidate gene selection.  ...  Next generation sequencing provides clinical research scientists with direct read out of innumerable variants, including personal, pathological and common benign variants.  ...  We would like to thank the support of Rick Tearle, Greg Tyrelle and Steve Lincoln with whom invaluable discussions for the presentation of Complete Genomics Data helped to complete this application development  ... 
doi:10.1186/2043-9113-2-19 pmid:23164068 pmcid:PMC3549785 fatcat:6ps3cmhifffipm4do2h3ihmqlm

From Genome Sequencing to Bedside

L. F. Soualmia, T. Lecroq
2013 IMIA Yearbook of Medical Informatics  
In the second article, a generic database independent from the sequencing technologies, Huvariome, can help to identify errors and inconsistencies in sequencing.  ...  Three steps of selection were performed by querying PubMed and Web of Science.  ...  On average, each individual genome has 13,595 SNVs, 2.3% of which were predicted to have functional impact on the protein of approximately 313 genes and 95.7% of them are rare.  ... 
doi:10.1055/s-0038-1638852 fatcat:qaiknhga3zesndx62gw6n7nozy