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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:
pnas.org/content/118/50…
Open Acces Link:
pnas.org/content/118/50…
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?
What's methylation?
PDF of HK Model Paper:
pnas.org/content/pnas/1…
I'll summarize my main takeaways from the current paper and end with some of my open questions/concerns.
pnas.org/content/pnas/1…
I'll summarize my main takeaways from the current paper and end with some of my open questions/concerns.
