What is the whole exome sequencing

Reference no: EM131130262

Paragraph 1:

What is the Whole Exome Sequencing (WES)?
What is the goal of it?
Applications of exome sequencing.
What is comprised?
Motivation and comparison to other approaches.

Exome sequencing is only able to identify those variants found in the coding region of genes, which affect protein function.

All the exons.All the translated genes.All the protein coding genes. Specific portion of the gene we believe is the most important (exons) where most mutations occur.

Extract the exons (segments). Sequence the segments

1- Break down the genome to exons and introns
2- Amplify the exons
4- to increase the number of genes and take it to higher amount, we need to use any amplification process.
3- Select the exons only. Called the amplification of target and that can be achieved by 4 different techniques. Microarray based hybridization, PCR, molecular inversion probe (MIP), and hybridized technology.
5- Sequence it with any kind of next generation sequencing. Like illumine
6- then we can find out if there is any disease, by different stages. culstring, read the data, aligned read, exons read

Now we are able to look at all 20,000 genes at one time by using powerful computers.

Paragraph 2:

https://www.broadinstitute.org/gatk/guide/bp_step.php?p=1

How to do whole exom analysis?
What are the steps?
Need different tool for each step. What they are?

Raw FASTQs to raw reads via mapping>bwamem tool
Raw reads to analysis-ready reads>picard tools
Local realignment around indels> Genome Analysis Tool Kit
Base quality score recalibration> Genome Analysis Tool Kit
HARD FILTERING> Genome Analysis Tool Kit

Write about each tool too.

Reference no: EM131130262

Questions Cloud

Cost of common equity-the future earnings and dividends : Cost of Common Equity The future earnings, dividends, and common stock price of Carpetto Technologies Inc. are expected to grow 4% per year. Carpetto's common stock currently sells for $30.00 per share; its last dividend was $2.50; and it will pay a ..

How do varied membrane composition contribute to membrane : How do varied membrane composition and the structural features of molecules in different cells contribute to membrane function?

How did you determine those costs and impacts : Which top THREE mitigations (and associated tasks) and risk handling plans should be implemented, and why? Remember that mitigation actions will affect cost, schedule and/or scope - so discuss what can you AFFORD to do based on the likelihood and..

What is percentage of debt in the firm capital structure : What is the percentage of debt (to be used in the WACC equation) in the firm's capital structure? Assume that the book value of the firm's debt approximates its market value and ignore other liabilities and deferred long-term liability charges

What is the whole exome sequencing : What is the Whole Exome Sequencing (WES)? What is the goal of it? Applications of exome sequencing. What is comprised? Motivation and comparison to other approaches.

Cost of common equity-equity comes from retained earnings : Cost of Equity with and without Flotation Javits & Sons' common stock currently trades at $28.00 a share. It is expected to pay an annual dividend of $1.00 a share at the end of the year (D1 = $1.00), and the constant growth rate is 3% a year. What i..

Draw two sets of supply-demand curves : In the case of more elastic supply, is the deadweight loss larger or smaller?

Chain of command and the method of public health response : Describe the chain of command and the method of public health response that was conducted in Severe Acute Respiratory Syndrome (SARS) public health emergencies situation.

Draw a graph to show the market effects of the minimum price : At the minimum price, the quantity of powdered milk supplied is____ million units, the quantity demanded is_________ million units, and the excess supply is _______million units.

User Account

All Pages