Variant Calling Analysis

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Variant Calling Analysis

Steps in Clinical Genomic Analysis

Read Alignment
The first step is to align the raw sequencing reads to a reference genome. Algorithms like BWA (Burrows-Wheeler Aligner) or Bowtie are commonly used for read alignment.
Preprocessing and Quality Control
Duplicate reads from sequencing can distort results. Removing these and recalibrating base quality scores corrects systematic errors, enhancing variant calling accuracy.
Variant Discovery
SNV Calling identifies single nucleotide changes (SNPs) and minor variations in the genome. Indel Calling detects insertions or deletions that may alter the gene expression reading frame.
Post-Processing and Variant Quality Control
Variant Quality Score Recalibration filters out false positives and enhances variant call accuracy by applying thresholds on read depth, mapping quality, and strand bias.
Annotation
Functional Annotation predicts the impact of identified variants on genes, proteins, and regulatory elements. Genix performs this using in-house annotation tools.
Variant Aggregation and Interpretation
Integrate data from multiple samples, particularly for population or familial studies, and work with clinicians and geneticists to interpret the biological and clinical significance of variants.
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WORK PROCESS

How genix.ai process & works.

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Read Alignment

Align raw sequencing reads to a reference genome using tools like BWA or Bowtie to determine read positions.

Preprocessing & Quality Control

Remove duplicate reads and recalibrate base quality scores to minimize sequencing errors and improve data accuracy.

Variant Detection

Identify single nucleotide variants (SNVs), insertions, and deletions (Indels) using variant calling tools.

Variant Filtering & Annotation

Filter out low-confidence variants and annotate the remaining ones to predict their functional and clinical impact.

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Frequently Ask Questions

1. What is included in the Genix DNA Report?
The Genix DNA Report offers a comprehensive view of your genetic makeup, covering key aspects of your health and wellness. It includes insights into your general well-being (like immunity and metabolism), athletic performance traits, genomic-based nutrition recommendations, skin health, and allergy predispositions. Additionally, it assesses your genetic risk for common cancers, identifies rare or hereditary disorders, and provides valuable data for reproductive and family planning decisions. All sections are presented in a user-friendly format with actionable recommendations.
2. How do I provide my DNA sample?
You will receive a saliva collection kit. Just follow the instructions and send it back to our lab.
  • Avoid eating, drinking, smoking, or chewing gum for 30–45 minutes before collection.
  • Spit into the provided funnel until it reaches the marked level.
  • Secure the sample with the stabilizing cap and return it using the prepaid return envelope. No blood, needles, or complicated tools are involved — just a quick, painless saliva sample.
3. Is the saliva collection process safe and easy?
Yes, the entire process is designed to be safe, hygienic, and hassle-free. The saliva kit meets international collection standards and includes clear, step-by-step instructions. Anyone can complete the collection independently at home in just a few minutes, making it accessible for both adults and children (above 2 years, with supervision).
4.How long does it take to get my report?
From the moment your sample reaches our certified lab, it typically takes 10 to 14 business days for processing, sequencing, and report generation. You will be notified via email and app notifications once your personalized report is ready to view.
5. How accurate is the analysis?
We use next-generation sequencing (NGS) and AI-powered genomic interpretation pipelines that are validated against international benchmarks. Our bioinformatics platform delivers insights with over 99.9% accuracy. Additionally, our content is curated and reviewed by certified clinical geneticists to ensure scientific and medical validity.
6. Is my genetic data safe and private?
Absolutely. At Genix.ai, privacy is our highest priority. Your genetic data is:
  • Encrypted at every stage (storage, transfer, and access)
  • Stored in HIPAA-compliant, secure cloud environments
  • You can also request complete deletion of your data at any time from within your Genix app.
7. Can I understand the report without a science background?
Yes, the report is written in simple, easy-to-understand language and includes intuitive visuals like charts and color-coded risk levels. Each section offers clear summaries, followed by optional detailed breakdowns for those who want to dive deeper. For further support, we offer in-app consultations with a certified genetic counselor to walk you through your results.
8. Will I receive diet or fitness recommendations?
Yes. Your DNA influences how your body metabolizes nutrients, builds muscle, responds to different diets, and recovers from exercise. Based on your genetic profile, you’ll receive personalized nutrition tips, recommended macronutrient balance, supplement advice, and fitness plans suited to your body type (endurance vs. power training potential, recovery time, etc.).
9. Can this test predict cancer or rare diseases?
The Genix DNA report does not diagnose diseases but instead evaluates your genetic predisposition to certain conditions based on known biomarkers and clinical evidence. For example, we assess your risk for BRCA-related breast and ovarian cancer, Lynch syndrome, or mitochondrial disorders. These insights empower you to seek preventive screening or lifestyle changes and discuss proactive care with a healthcare provider.
10. Is this test suitable for children?
Yes, children aged 2 years and older can take the test. Early access to genetic insights can help parents make informed decisions about nutrition, physical development, allergy management, and even emotional well-being. However, we recommend discussing sensitive results (e.g., disease risk) with a healthcare professional to ensure appropriate interpretation and action.
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