Discover and read the best of Twitter Threads about #epigenomic
Most recents (8)
An article describing the "45 is the new 50" change in guidelines in the US for #ColorectalCancer #Screening. Slightly biased towards $EXAS Exact Sciences Cologuard. ache.org/blog/2022/upda… 
$EXAS Exact Sciences is one of the companies I track, in many ways a pioneer in the #LiquidBiopsy #CancerScreening field although with a low-tech method compared to other players in this field such as $ILMN Illumina (via @GrailBio), and what other companies are planning ...
(1) Possible buyout of #ARM by #NVIDIA does have an effect on the #Bioinformatics field: many applications now are deployable on CPU/GPUs with #ARM and/or #NVIDIA chips on them. Some recent examples are:
(a) the Oxford @nanopore MinION Mk1c device, which originally was specced at Jetson TX2 ARM+Pascal GPU accelerators (ARM processor 6 cores, 256 Core GPU), 8 GB RAM (may have changed since then.
@ThinkingAboutV @nanopore The applied omics market based on #NGS technology is still an incipient market if we compare it to more established #diagnostics markets. But we are not far away from a point in time where every newborn's genome is ...
@ThinkingAboutV @nanopore ... sequenced at high quality (long reads, maybe with PCR-free including epigenome marks), and kept as an #EHR in the health system for future use. From then onwards, there will be recurrent #LiquidBiopsy assays, maybe once a year, to screen for a multitude of conditions.
@ThinkingAboutV @nanopore From 40-45 yo onwards, mainly cancer screening of healthy individuals, based on a #MachineLearning cancer classifier such as shown already by @GrailBio / $GH and others, but also other classifiers will come soon, such as #epigenomic profiling of #Neurodegenerative conditions, ...
Epigenomic biomarkers are becoming more established for #LiquidBiopsy and #CancerScreening, and we have seen the big players positioning themselves in this #epigenomics race recently.
Catching signs of #cancer early is crucially important to the disease management and survival rates, so the question is: how can we find out if there is something wrong going on early enough, ideally in a low-cost assay that can be performed regularly on healthy individuals?
@sbarnettARK Epigenomic biomarkers are becoming more established for #LiquidBiopsy and #CancerScreening, and we have seen the big players positioning themselves in this #epigenomics race recently.
@sbarnettARK Catching signs of #cancer early is crucially important to the disease management and survival rates, so the question is: how can we find out if there is something wrong going on early enough?
@sbarnettARK The first generation of high-throughput technologies was predicated on finding mutated (tumor) DNA in the individual's body (somatic), different from their (normal) DNA. Tumor/Normal (T/N) comparisons of the individual's samples, biopsies or ctDNA will indicate if there
We are not far away from routinely #genome sequencing every newborn suspected of having a rare/hereditary disorder.
In fact, there will be a point, especially in single-payer health care systems, where it'll be logistically preferable to routinely #genome sequence every newborn.
In fact, there will be a point, especially in single-payer health care systems, where it'll be logistically preferable to routinely #genome sequence every newborn.
What will it take? Management, machines, and money (3M), in that order:
1/ A management system that handles sample collection, carries on the sequencing effectively, and makes the result available: we are not far away from this in, e.g. the UK's (@NHS+Wales/Scotland/NI).
1/ A management system that handles sample collection, carries on the sequencing effectively, and makes the result available: we are not far away from this in, e.g. the UK's (@NHS+Wales/Scotland/NI).
We are much better at this now than, say, 1-2 years ago. See a successful system of coordinating this for lower throughput sequencing but high numbers of samples in #COVID19 cogconsortium.uk
#JPM2021 $GH #GuardantHealth my highlights: jpmorgan.metameetings.net/events/healthc… #LiquidBiopsy they are at the forefront of #Epigenomic profiling (Methylation+Fragmentomics)
#LUNAR1 #CRC bringing #Epigenomic profiling to recurrence testing with #Methylation profiling (no fragmentomics?)
1/ Excited to share work led by @varshney_arushi genetics.org/content/211/2/… @GeneticsGSA, we compared gene regulatory annotations defined using diverse #epigenomic data across 4 cell types to measure cell specificities and #genetics of #geneRegulation
2/ We observed that stretch and super #enhancers are more cell type-specific whereas HOT regions and broad domains comprise more ubiquitous promoter states
3/ #eQTL in stretch enhancers have significantly smaller effect sizes compared to those in HOT regions. This suggests regulatory buffering where the expression of cell-identity genes is more tightly controlled
