Exome Sequencing (EXOM SEQ)

EXOM SEQ

Whole genome sequencing is a largely used NGS method that involves the sequencing of the protein-coding regions of the genome.

Exome sequencing has several applications in research and clinical settings:

1. Disease Gene Discovery: Exome sequencing has been instrumental in identifying disease-causing genetic variants in rare Mendelian disorders. By sequencing the exomes of affected individuals and their family members, researchers can identify mutations in genes associated with the disease and gain insights into the underlying molecular mechanisms.

2. Cancer Genomics: Exome sequencing can be used to characterize the somatic mutations present in tumor samples. By comparing the exome sequences of cancer cells and healthy cells from the same individual, researchers can identify driver mutations that contribute to tumorigenesis and potentially guide personalized treatment approaches.

3. Pharmacogenomics: Exome sequencing can provide information about genetic variants that influence an individual's response to medications. This field, known as pharmacogenomics, aims to optimize drug selection and dosing based on an individual's genetic makeup, improving treatment outcomes and minimizing adverse drug reactions.

4. Population Genetics: Exome sequencing of individuals from diverse populations can shed light on genetic variations and population-specific disease risks. This information can be used to study evolutionary processes, population migration patterns, and the genetic basis of complex traits and diseases.