Updates to CNAM Make SVS the Fastest and Most Accurate Copy Number Tool for Common and Rare CNVs
by Bryce Christensen, Director of Services
SNP & Variation Suite (SVS) version 7.4 introduced an impressive array of new features that were not available in previous versions. New features range from major items like the all new Sequence Analysis Module to new shortcut keys and subtle improvements in infrastructure that most users will never notice. We created a list of over 50 new or updated features, but even that list is not complete and does not capture the extent of the work performed by our development team. I applaud them for their efforts. Today, I'd like to specifically review some of the new and updated features for copy number analysis that are present in version 7.4. Continue reading on "Our 2 SNPs" »
Checking Relatedness and-or Inbreeding in Samples as a Quality Assurance Measure
by James Grover, Senior Computer Engineer
Almost every statistic that is used for significance testing in scientific research comes with a set of assumptions. If the test is applied to data that does not meet those assumptions, then the results of the test may not be valid.
In the GWAS paradigm, the assumption of independent observation means that the observed genotypes must come from unrelated subjects in a random mating population. If subjects are related to one another, then their genotypes will of course be correlated, and the distribution of genotypes used in the test will not appropriately reflect the genotype distribution in the population. Consanguinity, or inbreeding, can similarly influence GWAS tests by violating the assumption of random mating.
Continue reading on "Our 2 SNPs" »
Getting Your Research Questions Answered Quickly with the Various Golden Helix Support Mediums
by Greta Peterson, Scientific Quality Analyst
At Golden Helix, we place a strong emphasis on customer support and helping our customers use the software to the best of their abilities to answer any research questions they have. Due to such a strong emphasis on customer and technical support, there are numerous sources of help available. It can be confusing trying to determine where to go to first for help, especially in the support climate of today that tries to distance the user from a real person. I'd like to help you figure out how to navigate our multiple support mediums. Continue reading on "Our 2 SNPs" »