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What is the success rate of exome sequencing?

Regardless of DNA sequencing approach, it is estimated that the diagnostic rate using exome or genome sequencing is plateauing between 35% and 50% (Taylor et al.

Can whole exome sequencing be wrong?

It is possible that this test will not find a reason for your or your childs signs and symptoms. About three out of four patients tested (75 percent) do not receive a diagnosis from WES. WES is not a perfect test. Our current understanding of the human exome is limited.

What is trio based exome sequencing?

As the name suggests, Trio-exome sequencing analyses genetic data from 3 people, including the baby, its mother, and the father. It is a powerful tool to identify variations in DNA that are known to cause specific inherited genetic conditions.

What are the limitations of exome sequencing?

The biggest limitation of whole exome sequencing (WES) is that it does not target 100% of the genes in the genome. Instead it focuses only on exons or coding proteins, which make up 1 2% of the entire genome. As a result, disease-causing variants in the missed exons go undetected.

What Cannot be detected by exome sequencing?

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.

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