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Gene Mutation AI

Gene Mutation AI (GMA) is an application by H2O.ai and supported by Snowflake that enables participants around genomics to use a patient's gene sequence variations data (VCF files) to:

  1. Evaluate on-demand a patient's risk for a particular disease determined by an appropriate uploaded model built-in Driverless AI.
  2. Identify the ten most influential genes that influence a model's risk prediction for a specific disease.
  3. Understand how common a disease risk has been among past patients.
  4. Compare a patient's disease risk to that of previously evaluated patients.
  5. Store and process efficiently and reproducibly thousands of genetic results in parallel.

GMA, as a result, eases the process of processing, analyzing, and storing a patient's gene sequence variations data while generating on-demand disease prognoses.

Audience​

GMA is intended for participants around genomics (e.g., clinicians)

Note

GMA assumes that basic knowledge of genomics has been acquired to build new predictive disease models.

Background​

A medical professional often considers a patient's genetic makeup to generate a medical diagnosis and discover the appropriate drug for a certain disease. For instance, observing someone's genetic makeup can determine someone's predisposition to a certain type of cancer or heart disease. Looking at a patient's genetic makeup cannot only shed light on someone's likelihood of developing a genetic disease but can also help determine the appropriate pharmaceutic intervention.

Before a medical professional or others can use the genetic data, the data needs to be processed, which is often a challenge. Unfortunately, processing the genetic data is not the only problem; problems during the analysis process of the genetic data make it complicated to use the data effectively. In essence, the pharmacogenomics and pharmacovigilance pipelines are currently dealing with a complicated process of preprocessing and analyzing a patients genetic data.

Access​

Gene Mutation AI is available on the H2O AI Cloud (HAIC). To learn how to access it, see Access H2O Health Apps.

Technology​

H2O.ai and Snowflake have combined specific technologies to create Gene Mutation AI. The technologies from both who were integrated are as follows:

H2O.ai​

  • Driverless AI
  • H2O Wave

Snowflake​

  • Snowpark Python API
  • Snowfalke user-defined fucntions (UDF)
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Last updated on by Oshini Nugapitiya