Discover and read the best of Twitter Threads about #nipt

Most recents (5)

Management of pregnant women with #SCD in high income countries with Dr. Eugene Oteng-Ntim (with the cutest intro from Dr. Eugenia Asare). Writing down the #pearls here so I can share with my patients for their future and so I can advocate for them. #ASH22 1/n
As we know, more low/not detectable AMH levels in women with #SCD. Know that preimplantation diagnosis and successful transfer is possible with data to support that. And many want #NIPT secondary to fear of amnio or CVS, which can be done. (w/ @Nonacus) #ASH22 2/n
What risks are we talking about in sickle cell disease and pregnancy? 1/4 of the patients in their cohort required transfusion during pregnancy and RR of preeclampsia is 2.43 and 3x risk of SGA, 4x risk of stillbirth. #ASH22 3/n
Read 5 tweets
3,202 page filing in @FTC vs. $ILMN. Need to crowdsource reading this for anything interesting. @AlbertVilella @coregenomics @SanDiegOmics @OmicsOmicsBlog @sbarnettARK @freenome…
Not a good look to alleviate #antitrust concerns over #Grail acquisition: "“Illumina is uniquely positioned to pioneer this field today. Forward pricing to ScreenCo enables the R&D to sequence at depths that are cost- prohibitive to others[.]” Image
" $ILMN identified preferential, low-cost access to Illumina sequencing technology as a competitive advantage for Grail:...identifying the “cost of sequencing” as the first among four “most significant barriers and drivers of liquid biopsy innovation and adoption”))" @sbarnettARK Image
Read 17 tweets
A recent publication by Dennis Lo et al applied long-read sequencing (LRS) in the prenatal screening (#NIPT) setting. It's a rather unorthodox technology/application pairing, and it's got me scratching my head a bit.

Open Acces Link:…
For context, earlier this year, Lo et al published a convolutional neural network ("the HK model") that enabled PacBio LRS devices to read methylation (5mC) across the entire genome with very high fidelity. This is important later.

What's methylation?
PDF of HK Model Paper:…

I'll summarize my main takeaways from the current paper and end with some of my open questions/concerns.
Read 30 tweets
$ARKG Tweet series
This series of tweets is my opinion only. Cathie Wood has created a group of ETFs that target the disruptive innovation that is both happening and accelerating. These funds have had stellar performance based upon innovation trends and economic theory.
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The $ARKG fund description is a good place to start. This has changed recently to a #CRISPR theme but started more with the sequencing cost declines which would drive diagnostics adoption and precision medicine
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The economic driver of the Genomic Revolution is a multiplier. Not only sequencing cost declines but the impact of moving from #ZFN to #TALENs to #CRISPR is key. As the editing cost has dropped CRISPR is seeing a dominant increase in publications.
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Read 23 tweets
The more work we do, the less we think sequencing (#NGS) will be the best platform for non-invasive prenatal testing (#NIPT).

I'll explain using a dishwasher as my analogy.

If you don't already know how NIPT works, refer to the image below, if you do, read on! Image
Imagine that your sequencer is a dishwasher and your lab washes dishes instead of processing NIPT samples. You need each dish to be spotless when it comes out.

You cooked a hearty meal and you have 100 dishes to clean, some much dirtier than others.
You decide to set the washer to its highest setting so that even the grimiest plates come out shining. Though satisfied at the end of the cycle, you realize you over-washed the other 99 dishes. If you were a bigger washing operation, this could really hurt your margins!
Read 12 tweets

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