Some stats and facts about the #Takifugu#rubripes assembly by @genomeark: this is the third iteration of the assembly. The first was completed in 2002. There was another iteration done in 2011. Why was the pufferfish sequenced so early? A lot has got to do with Sydney Brenner...
Indeed, as we can see in this archived version of @ensembl, the Fugu genome was the 5th vertebrate genome to be completed, after human/mouse/rat and zebrafish. Even though zebrafish is widely used as a model organism, Sydney Brenner argued that Fugu was worth sequencing ...
... The reason is that Sydney Brenner was passionate (obsessed?) with gene duplications and functional diversification. I.e. a gene duplicates in two copies, and over time, each copy can specialize in doing something slightly different. ...
... He studied genes related to vision and eye formation. Then why Fugu? He wanted another fish genome, close to zebrafish, but to ease proposition of the millions of $ that would take to sequence (back in 2002) he chose Takifugu rubripes, because something happened to it. ...
Similarly to the chicken genome, the Fugu genome is special in that at some point several million years ago, it "got rid of a lot of junk DNA", shedding out lots of repetitive regions in the genome, not unlike someone going on a diet after Xmas holidays. ...
... So the total genome size of Fugu is much smaller than other similar fishes in the evolutionary tree, and it's kept most of the genes and functional regions, but this smaller leaner genome was a lot cheaper to sequence back in 2002. ...
... So Sydney Brenner got what he wanted: a second fish genome to compare to zebrafish for him to study the fate of gene duplications, but without having to spend as much money as most fish (vertebrate) genomes.
#JPM2021#BiologicalDynamics@BiodynSD My Highlights: I'll cover this from the point of view of #LiquidBiopsy and #Epigenomics profiling, which is where my interest lies: their next-gen multiomics intro is about exosomes (and EVs, exosomal vesicles?)
The slide about Verita Biomarker Isolation Platform seems to be about isolating cells, with the right-most image showing "Visualized EV", which I presume is exosome vesicles
Later on, they do mention methylation markers, above the exosomes image, so I wonder if it's only DNA inside or bound to the exosomes?
#JPM2021@GenapSys My Highlights: I think it's fair to say I am more excited than most about this #NGS company, as I see them as an example of how to enter the market while keeping a small profile ($249M raised so far).
They now are aiming at 2021 to ship two new chips: 50MM read chip and 144MM sensor chip (not sure what the difference is between read/sensor).
They show a slide of price per Gb with #Illumina products as a reference, and their products now lined up, I think, for the first time with price per Gb info. Lowest will be the 144MM chip at ~$27/Gb.
#JPM2021#ExactSciences#LiquidBiopsy My highlights: I will focus on the liquid biopsy / #epigenomics profiling side of the presentation, which is where my interest lies: Exact described the data from Thrive multi-cancer screening, based on 'mutation+protein'
The details they gave on their other recent acquisition, #BaseGenomics are illuminating: they will use their bisulfite-free methylation profiling method for their Cologuard 2.0 test for CRC, but also for the multi-cancer test, and possibly the MRD test as well.
So this means that #ExactSciences intend to upgrade their tech in two steps: from current Cologuard 1.0 to a new test that includes Thrive's tech, and then a second upgrade using the #BaseGenomics#Epigenomics profiling tech.
#JPM2021@TwistBioscience My Highlights: back to the #DNAWrite field. TwistBio chip: 1M oligos but only as centralised factory setting.
Expanding to a new factory in Portland (roadmap 2022) to reduce TAT. Also mentioned the "long tail" of Clonal Ready Gene Fragments.
They have a few slides on #DNAasStorage with a denser chip in prototype phase where they think they can archive 1Tb for $100 (pay once, archive forever*) which, if my calculations are correct, would allow for 10-12 years of @awscloud Deep Glacier or similar mth/GB=0.00099*12*1E3
#JPM2021#LiquidBiopsy notable by their absence, which is more than excusable in these pandemic times: @freenome, Biocartis, Biodesix, Epic Sciences, ArcherDx (not by this name anyway). Worth following developments for them. In my book, worth following #Freenome of the ones here.
Smaller #LiquidBiopsy#Oncology#Diagnostics players also not at #JPM2021 but important in the field: Personalis, Inivata, Exosome Diagnostics, Epigenomics Ag, Personal Genome Diagnostics, Foundation Medicine, Singlera, Cambridge Epigenetix, and Bluestar Genomics.
Their T-Detect method is aiming at #MRD monitoring, here shown in a slide that relates it to their ImmunoSEQ T-MAP Cancer mapping tool, and their Identification of clinical TCR candidates.
They stress the T-cell Diagnostics angle in different slides. I recall only @freenome explicitly mentioning immune-profiling from the group of companies in early cancer diagnostics and #epigenomics profiling (Grail/GH/Thrive/Freenome/BioStar/CEGX/etc.)