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what is trio whole exome sequencing

by Collin Runolfsson Sr. Published 2 years ago Updated 2 years ago
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The Trio Whole Exome Sequencing test is a highly complex test that is newly developed for the identification of changes in a patient's DNA that are causative or related to their medical concerns.

Trio Exome Analysis using whole exome/clinical exome sequencing facilitates analyses of thousands of genes simultaneously to identify genetic alterations like insertions/deletions (indels), single nucleotide variants (SNVs) and copy number variations (CNVs).Oct 22, 2019

Full Answer

What is whole exome sequencing?

Whole exome sequencing is a type of genetic sequencing increasingly used to understand what may be causing symptoms or a disease. Genetic testing has already been used for a long time in some health areas, such as cancer diagnosis and prenatal screening.

What is next generation sequencing of trio family pedigrees?

Next generation sequencing of trio family pedigrees offers a powerful approach for the identification of causal mutations for inherited diseases. Trio analysis can be used to identify variants inherited from the parents causing recessive disease or dominant disease.

What is whole-exome sequencing for kidney and urinary tract disorders?

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. 2016, Genet Med. epub. doi:10.1038/gim.2016.131

What is the best target enrichment strategy for whole exome sequencing?

The first target enrichment strategy to be applied to whole exome sequencing was the array-based hybrid capture method in 2007, but in-solution capture has gained popularity in recent years. In-solution capture.

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What is trio based whole exome sequencing?

The Trio Whole Exome Sequencing test is a highly complex test that is newly developed for the identification of changes in a patient's DNA that are causative or related to their medical concerns.

What does whole exome sequencing test for?

Research has shown that exome sequencing could detect genetic mutations related to birth defects and developmental delays. So, patients who have a family history of disease or are searching for a diagnosis to explain symptoms may be able to avoid unnecessary diagnostic tests by undergoing exome sequencing.

What is Wes trio?

WES Diagnostic Trio. It is a comprehensive genetic test that is offered to the affected individual and their parents in order to identify and report any variants relating to the affected individuals disease/condition, additionally this test can help determine whether the disease-causing variant is inherited.

What is a trios study?

Trio studies, which involve the testing of samples from a proband and both parents, are often used by clinical laboratories to help with the classification of genetic variants, including copy number variants.

What can whole exome sequencing not detect?

Exome sequencing is limited in detecting the following types of mutations (this list might not be exhaustive): large rearrangements. copy number variation mutations (large deletions/duplications) mitochondrial genome mutations.

How accurate is whole exome sequencing?

“On average, we capture and sequence >99.4% of the exome with a quality enabling reliable variant calls. Coverage also refers to how many times each nucleotide is being sequenced.

Is whole exome sequencing covered by insurance?

Insurers often classify whole genome sequencing as experimental. Insurers do cover whole genome sequencing for some critically ill NICU patients.

How long does whole exome testing take?

Whole-exome sequencing typically takes a few months. Once the test is complete, a written report of the results will become part of the patient's electronic medical record, and the provider who ordered the test will follow up with the patient to discuss the results.

How long does Wes genetic testing take?

WES - Reflex from Panel TestingTest CodeTest NameTurn Around TimeD9999Reflex to Whole Exome Sequencing (from Panel Test)3-5 weeksMay 27, 2022

Overview

If you have a health condition that is difficult to diagnose, or a family history of medical problems, your doctor might recommend genetic sequencing for additional clues. Whole exome sequencing is a type of genetic sequencing increasingly used to understand what may be causing symptoms or a disease.

What is the exome?

The human genome, the term for an individual's complete set of DNA, is made up of three billion "letters" (called base pairs). These are, in turn, crammed into 23 pairs of thread-like structures called chromosomes, which are inside every cell in the body.

Am I a candidate for whole exome sequencing?

Given that whole exome sequencing is still a relatively new diagnostic technique, doctors are judicious in selecting which patients may benefit from having it done. Research has shown that exome sequencing could detect genetic mutations related to birth defects and developmental delays.

What are the risks and benefits of exome sequencing?

There are many potential benefits of exome sequencing. For example, if your doctor learns that you have a genetic variant strongly associated with heart disease, he or she may advise a proactive treatment plan that focuses on heart healthy foods and lifestyle habits.

Baylor Genetics Exome Diagnosis Rates

The exome diagnosis rate at Baylor Genetics is approximately 30% for proband or trio exome, and approximately 40% for prenatal trio and critical trio exome. Ordering the exome test with a shorter turn-around time can impact health outcomes in a significant way, especially for younger patients.

Indications for Testing

The exome diagnosis rate at Baylor Genetics is approximately 30% for proband or trio exome, and approximately 40% for prenatal trio and critical trio exome. Ordering the exome test with a shorter turn-around time can impact health outcomes in a significant way, especially for younger patients.

Motivation and comparison to other approaches

Exome sequencing is especially effective in the study of rare Mendelian diseases, because it is an efficient way to identify the genetic variants in all of an individual's genes.

Technical methodology

Target-enrichment methods allow one to selectively capture genomic regions of interest from a DNA sample prior to sequencing. Several target-enrichment strategies have been developed since the original description of the direct genomic selection (DGS) method in 2005.

Comparison with other technologies

There are multiple technologies available that identify genetic variants. Each technology has advantages and disadvantages in terms of technical and financial factors. Two such technologies are microarrays and whole-genome sequencing .

Data analysis

The statistical analysis of the large quantity of data generated from sequencing approaches is a challenge. Even by only sequencing the exomes of individuals, a large quantity of data and sequence information is generated which requires a significant amount of data analysis.

Ethical implications

New technologies in genomics have changed the way researchers approach both basic and translational research. With approaches such as exome sequencing, it is possible to significantly enhance the data generated from individual genomes which has put forth a series of questions on how to deal with the vast amount of information.

Applications of exome sequencing

By using exome sequencing, fixed-cost studies can sequence samples to much higher depth than could be achieved with whole genome sequencing. This additional depth makes exome sequencing well suited to several applications that need reliable variant calls.

Patients of Proband or Trio WES

In 2019, proband-WES was applied to a case study of 33 patients to detect deleterious variants associated with a rare type of hearing loss [6]

Which WES test is right for me?

Below are some key points to consider when opening a dialogue with your physician about which test may be best suited for your situation.

The Future of WES

Standardized coupling of copy number variation sequencing (CNVseq) with trio-WES (Tri-CNVseq), specifically

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1.Whole Exome Sequencing, TRIO - Clinical test - NIH …

Url:https://www.ncbi.nlm.nih.gov/gtr/testsmicrobe/575504/overview/

27 hours ago  · The Trio Whole Exome Sequencing test is a highly complex test that is newly developed for the identification of changes in a patient's DNA that are causative or related to their medical concerns. Popular

2.Videos of What Is Trio Whole Exome Sequencing

Url:/videos/search?q=what+is+trio+whole+exome+sequencing&qpvt=what+is+trio+whole+exome+sequencing&FORM=VDRE

29 hours ago Whole Exome Sequencing (WES) is performed on genomic DNA using the Agilent V5PlusV2 targeted sequence capture method to enrich for the exome. These targeted regions are then sequenced using the Illumina NovaSeq sequencing system with 100 bp paired-end rea

3.Whole Exome Sequencing > Fact Sheets > Yale Medicine

Url:https://www.yalemedicine.org/conditions/exome-sequencing

18 hours ago Trio analysis using either Whole exome or Clinical exome sequencing facilitates analyses of thousands of genes simultaneously to identify genetic alterations like insertions/deletions (indels), single nucleotide variants (SNVs) and copy number variations (CNVs).

4.Trio Whole Exome Sequencing - Clinical test - NIH …

Url:https://www.ncbi.nlm.nih.gov/gtr/testsmicrobe/553916/overview/

12 hours ago Trio Whole Exome Sequencing GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version.

5.Trio Whole Exome Sequencing

Url:https://policyonline.nhslothian.scot/Policies/PatientInformation/Trio_Whole_Exome_Sequencing.pdf

23 hours ago Trio whole exome sequencing involves looking at all the DNA that codes for proteins (the exome). Most commonly an affected individual’s exome is compared to the exomes of their biological parents. This allows us to find new changes that have occurred in the affected individual, or inherited gene

6.Whole Exome Sequencing | Baylor Genetics

Url:https://www.baylorgenetics.com/whole-exome-sequencing/

21 hours ago The Trio Whole Exome Sequencing test is a highly complex test that is newly developed for the identification of changes in a patient's DNA that are causative or related to …

7.Medical Genetics Test Details - Baylor College of Medicine

Url:https://www.bcm.edu/research/medical-genetics-labs/test_detail.cfm?testcode=1600

35 hours ago Exome sequencing, also known as whole exome sequencing, is a genomic technique for sequencing all of the protein-coding regions of genes in a genome. It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons—humans have about 180,000 exons, constituting about 1% of the human genome, or …

8.Exome sequencing - Wikipedia

Url:https://en.wikipedia.org/wiki/Exome_sequencing

10 hours ago  · Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation; Pitfalls of trio-based exome sequencing; MAGEL2 mutation; Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders; Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels … Whole-exome sequencing helps the …

9.Comparing Proband and Trio Whole Exome Sequencing

Url:https://3billion.io/blog/comparing-proband-and-trio-wes-whole-exome-sequencing-rare-diseases/

23 hours ago

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