Building a Tool to Cross-Check Genetic Data Using Elixir

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Building a Tool to Cross-Check Genetic Data Using Elixir

Source: austinsaunders.io

Type: Post

The author shares their experience with genetic testing and the challenges of understanding genetic data, particularly related to BRCA mutations. After investigating resources on genetics and gathering data from the ClinVar database, they created a tool called 'clinvar-checker' to cross-reference their 23andMe genetic data against known variants. The author highlights how they leveraged Elixir's features, including ETS for efficient data access and Flow for parallel processing, to achieve fast results in checking genetic variants. They emphasize the importance of understanding the intricacies of genetic data and the software engineering principles that led to successful optimizations, resulting in a user-friendly tool that others can use without needing in-depth programming knowledge.

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