Introduction to Clinical Exome Sequencing
Clinical exome sequencing is a powerful diagnostic tool that analyzes the coding regions of genes to identify genetic variations. This technique is invaluable in diagnosing genetic disorders and guiding tailored treatments.
How It Works
The process begins with the extraction of DNA from a patient’s sample, followed by the sequencing of protein-coding regions called exomes. Advanced bioinformatics tools are then used to interpret the data, pinpointing variants that may be responsible for genetic conditions.
Applications and Benefits
Clinical exome sequencing is particularly useful in identifying rare genetic disorders, providing insights into complex conditions that traditional methods might miss. Its comprehensive approach helps healthcare providers make more accurate diagnoses, leading to better patient care and personalized treatment plans.