For those working with gene panels or performing validation control workflows, BED and VCF files are integral to the entire process. In fact, through the Genome in a Bottle Consortium (GIAB), the National Institute of Standards and Technology (NIST) has … Continue reading
In the past decade, the ability to determine complex mechanisms underlying disease has been made easier by a variety of factors, especially the availability of large amounts of data. In fact, with the continuously decreasing costs of obtaining whole exome … Continue reading
Next-generation sequencing technologies have reduced the cost and increased the speed of DNA sequencing so significantly that the resulting volume of sequencing data is challenging the traditional approaches to data analysis. This issue of processing can be addressed through innovative … Continue reading
Nephropath™ incorporates DNASTAR pipeline for validating processes against NIST “gold standard.” The resources provided by the National Institute of Standards and Technology (NIST) Genome in a Bottle (GIAB) consortium promise to greatly improve the reliability of genetic assays. With … Continue reading
Today’s marketplace is overflowing with different bioinformatics software solutions. How do you begin to parse through the available options to find the perfect next-gen sequence assembly and analysis software for your project? Here are five considerations when it comes to … Continue reading
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