What is Exome Sequencing? | Genetics 101 | Ambry Genetics

It involves carefully studying our genes, which have all the instructions for how our bodies work and develop. We all have small changes in our genes, actually, and that’s what makes us unique. However, some changes (like disease-causing mutations) can cause our bodies not to work properly. This can lead to medical problems. Genetic testing aims to find these small changes that can cause medical problems, so that we can get an answer and access to other things that might help us (like specific medical care or treatment).

Our genes are organized into two main sections: exons and introns. Most disease-causing mutations are actually in our exons, which is only 1-2% of all our genes. Clinical exome sequencing is a complex and efficient genetic test that studies all the genes in our exons at once. The goal of clinical exome sequencing is to find the sole genetic cause of a medical problem that we may have, which may be a long-awaited answer that really helps us and our family.

[cherrytreez]

This mentions exome sequencing for less than 20 seconds and doesn't even go into any details whatsoever.

[jamesk]

This video says nothing about how exome sequencing is done.

[hereditarycoloncancerfound]

This is an excellent, patient-friendly resource!

[marianougaz]

Ok this is great! But what is exome sequencing?

[trunghieu]

Disliked. The video has no information on Exome sequencing.

[warsaho]

Every disease can be predicted by whole genome sequence + whole exome sequence + correct data analysis

[SkinnyMinnie]

Where is the info about exome sequencing ?

[Smiesznosyn]

Good background music, what is the title ?

[kayceec]

Sounds like genome sequencing and not exome sequencing...