Exac

Definition

Exac refers to the Exome Aggregation Consortium, a project that aggregates and analyzes exome sequencing data from diverse populations to study genetic variations and their association with diseases. This resource is particularly useful for understanding the impact of insertions and deletions (indels) in the human genome, as it provides valuable insights into how these variations affect gene function and contribute to genetic disorders.

5 Must Know Facts For Your Next Test

1. The Exac database contains data from over 60,000 individuals and provides comprehensive information about genetic variations found in diverse populations.
2. Exac helps researchers identify rare genetic variants associated with specific diseases by analyzing how often these variants occur in different populations.
3. Understanding the role of indels in exac data can help clarify their contribution to gene function disruptions and potential phenotypic consequences.
4. The project emphasizes the importance of population diversity in genetic research, allowing for a more accurate interpretation of variant significance across different ethnic backgrounds.
5. Exac is frequently used in clinical genetics to aid in diagnosing genetic disorders by comparing patient variants with population-level data.

Review Questions

• How does exac contribute to our understanding of indels and their impact on genetic diseases?
  • Exac provides a large dataset that includes information on various genetic variants, including indels. By analyzing this data, researchers can determine how often specific indels occur in different populations and assess their association with various genetic diseases. This understanding helps in elucidating the functional impact of these mutations on genes and their role in disease pathology.
• Discuss the significance of population diversity in the exac project and how it enhances the interpretation of genetic variants.
  • The exac project includes exome sequencing data from a wide array of populations, which is crucial for accurately interpreting genetic variants. This diversity allows researchers to see how certain variants may have different frequencies and effects in different ethnic groups. Such insights are essential for understanding the clinical relevance of variants and their implications for personalized medicine and genetic counseling.
• Evaluate how exac has influenced clinical genetics, particularly in diagnosing genetic disorders through the analysis of indels.
  • Exac has significantly influenced clinical genetics by providing a comprehensive resource for identifying rare indels associated with specific conditions. By comparing a patient's genetic variants against exac's population-level data, clinicians can ascertain whether a variant is likely pathogenic or benign. This evaluation aids in making informed diagnoses and treatment decisions, ultimately improving patient outcomes by enabling more personalized approaches based on an individual's unique genetic makeup.

Related terms

Indels: Insertions and deletions (indels) are types of mutations where bases are added or removed from the DNA sequence, which can lead to changes in the protein coding sequence.

Exome Sequencing:

Exome sequencing is a technique that focuses on sequencing only the coding regions of genes, known as exons, which represent a small fraction of the genome but contain most known disease-related variants.

Genetic Variants: Genetic variants are differences in the DNA sequence among individuals, which can be single nucleotide polymorphisms (SNPs), indels, or larger structural variants that may impact health and disease.