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Let's discuss long-read #sequencing, optical mapping, and the implications of a recent study (linked below).
Please view my disclosures at the end. I've intentionally made this thread more technical as I think it's necessary.
biorxiv.org/content/10.110…
Let's discuss long-read #sequencing, optical mapping, and the implications of a recent study (linked below).
Please view my disclosures at the end. I've intentionally made this thread more technical as I think it's necessary.
biorxiv.org/content/10.110…
First, let's deconstruct the paper's title: "De Novo Assembly of 64 Haplotype-Resolved Human Genomes of Diverse Ancestry and Integrated Analysis of Structural Variation".
De novo (Latin: "Of New") assembly involves sequencing a genome without the help of a reference.
De novo (Latin: "Of New") assembly involves sequencing a genome without the help of a reference.
Assembling a #genome de novo is like solving a jigsaw puzzle without using the picture on the front of the box. You could start with the corners, assemble the edges, and try to fill in the rest using color- or shape-matching methods.
Let me use an analogy.
Let me use an analogy.
