Category Archives: Technology review

Updates to CNAM Make SVS the Fastest and Most Accurate Copy Number Tool for Common and Rare CNVs

A recent email from a user of SVS: “Your CNAM Optimal Segmentation algorithm is by far the best I ever used and believe me, I’ve tried many. Great use of the GPU for segmentation – it is 3x faster than using my 8 CPUs alone and 25x faster compared to 1 CPU.” SNP & Variation Suite (SVS) version 7.4 introduced… Read more »

Checking Relatedness and/or Inbreeding in Samples as a Quality Assurance Measure

James' whiteboard with IBD calculations

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. The statistics commonly used in genome-wide association studies (GWAS), such as the Fisher’s Exact Test or the Chi-Square Test,… Read more »

A Hitchhiker’s Guide to Next Generation Sequencing – Part 3

The advances in DNA sequencing are another magnificent technological revolution that we’re all excited to be a part of. Similar to how the technology of microprocessors enabled the personalization of computers, or how the new paradigms of web 2.0 redefined how we use the internet, high-throughput sequencing machines are defining and driving a new era of biology. Biologists, geneticists, clinicians,… Read more »

A Hitchhiker’s Guide to Next Generation Sequencing – Part 2

When you think about the cost of doing genetic research, it’s no secret that the complexity of bioinformatics has been making data analysis a larger and larger portion of the total cost of a given project or study. With next-gen sequencing data, this reality is rapidly setting in. In fact, if it hasn’t already, it’s been commonly suggested that the… Read more »

A Hitchhiker’s Guide to Next Generation Sequencing – Part 1

If you have had any experience with Golden Helix, you know we are not a company to shy away from a challenge. We helped pioneer the uncharted territory of copy number analysis with our optimal segmenting algorithm, and we recently hand crafted a version that runs on graphical processing units that you can install in your desktop. So it’s probably… Read more »