Discover and read the best of Twitter Threads about #haplotype

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Pedigrees and Linked genes.
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.
Read 11 tweets
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.…
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.
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.
Read 31 tweets

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