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* Personal WGS Providers

Randy Harr - Sun 22 of Sep, 2024 08:42 EDT
As the list continues to expand, we are simply keeping a companion spreadsheet up to date with providers of personal Whole Genome Sequencing (WGS) services. As per the supporting personal WGS Facebook group, this is for those companies offering direct to consumer, under $500, 30x (pseudo clinical grade) WGS testing. Track the latest table of vendors in the Personal WGS Vendors spreadsheet. The spreadsheet has been available for over a year. Just now this article to reference and support it.

* First reported YSEQ WGS results from users

Randy Harr - Tue 03 of May, 2022 22:35 EDT
We are glad to report on the first results coming out of the YSEQ lab of their new WGS tests based on a new MGI DNB-GS400RS sequencer they have purchased. Included here are a WGS400 single-end (15x by design) and WGS+ (30x) tests. These are simply example and not minimum, maximum or average values. They do represent a hope at expected values though.

* Finally, a review of Sequencing.com

Randy Harr - Wed 06 of Apr, 2022 20:25 EDT
We have been mentioning sequencing.com as a fourth player shortly after they quietly introduced their $399 WGS product in the summer of 2021. But not really focused on them as they seemed to just be reselling the Nebula Genomics product. While the laboratory services are still from Nebula, the bioinformatics and analysis is all their own. So we thought it time treat them as a separate player.

* Why all the fuss over the T2T "model"?

Randy Harr - Wed 29 of Sep, 2021 09:16 EDT
UPDATED 22 Dec 2021 and 22 Jan 2022
With the release in April 2021 of the first Telomere to Telomere project (T2T) results, we saw the first high-reliability, long-read scan method used to assemble and build a model of a true COMPLETE chromosome (the X). No more gaps; no more N's in the model. Which is very exciting for researchers in the field. The Telomere to Telomere work is in collaboration with the pan-genome project. But is this excitement warranted for the casual WGS consumer at this time? Maybe not quite yet.

UPDATE: Some in the Y chromosome phylogenetic tree community discovered in December a check-in made in November of a nearly final draft of the Allosome part of another sample (HG002). Which has led to a gold-rush mentality among competitors in that community to be the first to discover new variants in the Y chromosome and explore the over 50% that is "missing" in the latest analysis models. But the same issues of waiting apply; even with the supposed final v2.7 posted in mid-January that was then added to a new v2 check-in of the v1.1 T2T model that was missing the Y.

* Survey and Classification of Human Genome Reference (Analysis) Models

Randy Harr - Mon 22 of Feb, 2021 18:02 EST
We have just concluded an 8 month exhaustive survey of available Human Genome Reference Models in FASTA format. The result was a little surprising in some instances but mostly followed well-repeated conventions from the industry. Out of this study, we have developed a new classification system for the models that can be better used to match an already aligned BAM file to its likely reference model used to build it. This is important for follow-on processing to extract variants into VCF files or possibly compress with the CRAM format.

* YSEQ jumps into the DTC WGS market with WGS400

Randy Harr - Tue 16 of Feb, 2021 16:50 EST
Long an innovator in the genetic genealogy market, Thomas Krahn of YSEQ has developed a new entry that is going to (likely again) shake the market up. And finally put closure to the adoption by everyone of WGS technology as the first choice to be applied to genetic genealogy. Something we have been seeing and preparing for over the last few years.

* Ouch! Data taken off line without notice by Dante Labs

Randy Harr - Thu 24 of Sep, 2020 21:27 EDT
Dante Labs has pulled what is yet another public relations nightmare in their long "love them / hate them" relationship. They have taken users genome sequencing data files offline without any notice. With a sketchy unannounced plan to institute a subscription service for access to data more than 90 days after the initial delivery.

* Is Sequencing.com really a new under-$500 DTC 30x WGS entry?

Randy Harr - Mon 04 of May, 2020 08:57 EDT
With the promotion by Sequencing com of their 30x WGS test entry, are they really a new player? Or just a re-branding of what is already available? To date, only Dante Labs (the pioneer in November 2018) and Nebula Genomics are offering under $500, DTC 30x WGS tests. Is Sequencing com now a third provider?