Tweet
.rod files with annotation for snps - anyone know what these look like?
-
-
> head dbsnp_130_hg18.rod
585 chr1 259 260 rs72477211 0 + C C A/G genomic single unknown 0 0 unknown exact 3
585 chr1 491 492 rs55998931 0 + C C C/T genomic single unknown 0 0 unknown exact 1
585 chr1 518 519 rs62636508 0 + G G C/G genomic single unknown 0 0 unknown exact 1
585 chr1 582 583 rs58108140 0 + G G A/G genomic single unknown 0 0 unknown exact 1
585 chr1 800 801 rs28853987 0 + G G A/G genomic single unknown 0 0 unknown exact 1
585 chr1 876 877 rs28484712 0 + G G A/G genomic single unknown 0 0 unknown exact 1
-
I’m not a sequencing expert. I’m a purification scientist who uses NGS to evaluate workflows my group develops. With this perspective, we think about the sample first and the NGS workflow second. The sequencer is an exceptionally honest reporter, but it can only report on what you give it, so whether you get clean, interpretable data from an NGS workflow is largely determined before you begin.
Here are nine questions we think about, in roughly the order they matter, before...06-18-2026, 07:11 AM -
Data variability is still an issue in sequencing technologies despite the advances in reproducibility and accuracy of these platforms. But the problem does not originate in the sequencing itself, but in the previous steps, before the sample reaches the sequencer.
The first step is collection, followed by preservation and sample preparation for analysis. Most scientists overlook those steps, but not being careful might just be skewing the experiment’s results.
...06-02-2026, 10:05 AM -
With the launch of new single-cell sequencing platforms in 2026, the field stands at an exciting inflection point. This article surveys the most impactful advances in the field and discusses how they’re reshaping research in cancer, immunology, and beyond.
Introduction
Single-cell sequencing technologies have undergone remarkable advances over the past decade, transitioning from low-throughput experimental approaches to highly scalable platforms capable of...05-22-2026, 06:42 AM
Comment