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University of IowaIowa Research Online Theses and Dissertations Fall 2016Variantcuration and database instantiation (VariantCADI): an integrated software system for the automation of collection, annotation

How to fill out variant-curation and database instantiation

How to fill out variant-curation and database instantiation

1. Gather all relevant genomic data for the variants you wish to curate.
2. Review existing literature and databases to collect information on the variants.
3. Assess the clinical relevance of each variant using established guidelines.
4. Fill out the variant curation form with details such as variant type, genomic location, and phenotype associations.
5. Validate the information using multiple sources to ensure accuracy.
6. Enter the curated variant data into the database, ensuring that all required fields are completed.
7. Regularly update the database with new findings and clinical insights as they become available.

Who needs variant-curation and database instantiation?

1. Researchers studying the genetics of diseases.
2. Clinicians who require reliable variant information for patient care.
3. Genetic counselors assisting families in understanding hereditary risks.
4. Bioinformatics professionals focusing on genomic data interpretation.
5. Organizations developing genetic testing technologies.

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What is variant-curation and database instantiation?

Variant-curation refers to the process of assessing genetic variants to determine their clinical significance, while database instantiation involves organizing and storing these curated data in a database for easy access and analysis.

Who is required to file variant-curation and database instantiation?

Researchers, geneticists, or institutions involved in genetic testing and research typically are required to file variant-curation and database instantiation as part of their efforts to ensure accurate reporting of genetic variants.

How to fill out variant-curation and database instantiation?

To fill out variant-curation and database instantiation, one should collect relevant data about the variants, assess their clinical significance using established guidelines, and systematically document this information in the designated database format.

What is the purpose of variant-curation and database instantiation?

The purpose of variant-curation and database instantiation is to ensure reliable and standardized information on genetic variants, facilitating their use in clinical decision-making, research, and public health.

What information must be reported on variant-curation and database instantiation?

Information that must be reported includes variant identifiers, clinical significance, evidence supporting the curation, pathogenicity classification, allele frequency, and associated phenotypes.