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    Genomic Interpretation

    From Raw Reads to Meaningful Insights

    At Alstronix Technologies, we specialize in transforming complex genomic data into clinically and biologically relevant insights. Our Genomic Data Analysis & Interpretation solution provides an end-to-end bioinformatics pipeline tailored for clinical diagnostics, population research, and precision medicine—with special emphasis on the genetic diversity of the Indian population.


     What We Deliver

     Comprehensive Analysis Pipelines

    We support a wide range of sequencing data types:

    ·       Whole Genome Sequencing (WGS)

    ·       Whole Exome Sequencing (WES)

    ·       Targeted Panels

    ·       RNA-seq / Transcriptomics

    Our workflows are built on trusted tools:
    FastQC, Trimmomatic, BWA, SAMtools, GATK, DeepVariant, VEP, ANNOVAR, ClinVar, and more.

     High-Confidence Variant Calling

    ·       SNPs and Indels

    ·       Structural Variants (SVs)

    ·       Copy Number Variations (CNVs)

    ·       Mitochondrial Variants

    ·       Somatic vs Germline Classification

    Functional Annotation & Prioritization

    ·       ACMG classification of variants

    ·       Population frequency filtering (gnomAD, 1000 Genomes, India-specific datasets)

    ·       Phenotype-based variant ranking

    ·       Integration with HPO terms, OMIM, ClinVar, HGMD

    AI-Augmented Interpretation

    Our AI engine accelerates diagnosis by:

    ·       Ranking pathogenic variants

    ·       Predicting variant impact

    ·       Matching genotype to phenotype

    ·       Suggesting candidate gene-disease associations 

    Clinical-Ready Reports

    We generate fully customizable reports for:

    ·       Clinicians

    ·       Genetic counselors

    ·       Research teams

    ·       Regulatory submissions

    Features include:

    ·       Clear variant classification

    ·       Gene and disease associations

    ·       Inheritance pattern insights

    ·       Drug interaction flags (when integrated with PGx data)

    Who Is It For?

    ·       Clinical labs needing rapid and accurate diagnostics

    ·       Hospitals looking to add genomic services

    ·       Researchers analyzing family-based or cohort studies

    ·       Startups developing precision medicine platforms

    ·       Pharma and biotech teams exploring gene targets

    Deployment Options

    ·       Cloud-based portals for on-demand analysis

    ·       On-premises pipelines for full data control

    ·       API integration for healthcare and research platforms

    ·       Batch processing for large-scale studies

    Designed for the Indian Genomic Landscape

    Most global tools underperform on South Asian genomes. We integrate population-specific filters, references, and annotations to maximize accuracy and reduce false positives in Indian and related ancestries.


    Let’s Decode the Genome Together

    From QC to clinical decision support, our analysis and interpretation solution is designed for speed, accuracy, and clinical impact.