G E N I X

Rare Disease Diagnostics

Clinical Assessment Icon

Clinical Assessment

Description of Symptoms: Begin with a thorough clinical assessment of the patient. Document detailed information about the symptoms, medical history, family history, and any relevant clinical observations.

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Sequencing Method Icon

Selection of Sequencing Method

Decide on the most suitable sequencing method based on the clinical question, the suspected genetic basis of the disease, and available resources. Options include whole-genome sequencing (WGS) or whole-exome sequencing (WES), among others.

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Data Generation Icon

Data Generation and Preprocessing

Stay ahead of disruption & exceed customer expectations by implementing predictive analytics solutions.

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Variant Calling Icon

Variant Calling and Annotation

Identify genetic variations (mutations) in the patient's DNA by comparing it to a reference genome. This involves detecting single nucleotide variations (SNVs), insertions, deletions, and other structural variations.

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Variant Prioritization Icon

Variant Prioritization and Filtering

Prioritize variants based on their association with known disease genes or pathways. Tools and databases that curate disease-related genetic information can assist in this step.

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Clinical Interpretation Icon

Clinical Interpretation and Reporting

Compile a comprehensive report summarizing the genetic findings, their potential implications for the patient's health, and recommendations for further clinical management or confirmatory testing.

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WORK PROCESS

How genix.ai process & works.

  • 1

    Choose the Appropriate Sequencing Technology

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  • 2

    Sample Collection

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  • 3

    Sequencing

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  • 4

    Variant Calling

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  • 5

    Report Generation

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