Whole-Exome Sequencing

SEO Title: Whole-Exome Sequencing (WES): Genetics, Exons, Diagnosis and Applications

Category: Science & Technology | Biotechnology | Genetics

UPSC Notes

Whole-Exome Sequencing (WES) is a genomic technique used to sequence the exons, the protein-coding portions of genes.

Key Pointers

  • Exome = collection of exons in the genome.

  • Exons constitute a relatively small portion of the human genome but contain many known disease-associated variants.

  • WES can identify:

    • Genetic mutations

    • Disease-associated variants

    • Rare genetic disorders

  • Applications:

    • Medical diagnosis

    • Cancer research

    • Rare disease studies

    • Precision medicine

  • Compared with whole-genome sequencing, WES focuses primarily on protein-coding regions.

  • Limitations include difficulty detecting some structural, regulatory and non-coding variants.

Prelims Focus: WES → exons → protein-coding regions → genetic variants → disease diagnosis.