Discover and read the best of Twitter Threads about #Haplotype
Most recents (2)
1/ The pedigree is a diagram that is used to track a trait across a family tree. It might be cool to track the trait of red hair in your family. The pedigree is critical for tracking a genetic disease through a family to determine what the risk of inheritance. 
2/ There are some basics to drawing a pedigree. The lines connect lineages with the males being the squares and the females being the circles. Some pedigrees will use a slash / to cross out deceased people in the pedigree. There are some basics to drawing a pedigree.
A Thread (🧵)
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.
