Revealing chromosome contours, one dot at a time

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Revealing chromosome contours, one dot at a time
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New genomic methods that meld imaging with sequencing are uncovering how chromosomes are physically arranged — and how that influences cell fates.

sequencing of genomic DNA on a microscope slide. But because a single sequence wouldn’t be very bright, researchers first amplify the signal by repeatedly copying the sequences.

Next, the researchers decode those nanoballs using sequencing by ligation. But that method can read only about 20 bases: too few to conclusively identify a genetic region. This is where the barcodes come in. On the slide, the researchers sequence only the barcodes. Then they break up the cells and extract their DNA to sequence them again using standard sequencing by synthesis.

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