Variant Analysis

Variant analysis identifies genetic variations such as single-nucleotide polymorphisms (SNPs), insertions/deletions (indels), copy number variations (CNVs), and structural variants by comparing sequencing data against a reference genome. This approach enables comprehensive characterisation of genomic differences associated with traits, diseases, evolutionary processes, and population diversity. It is widely used for genotype profiling, precision medicine research, biomarker discovery, clinical genomics, and population genetics studies across diverse biological systems.

Default Deliverables

  • Quality-Controlled Sequence Files

    FASTA/FASTQ files containing filtered, trimmed, and quality-controlled sequencing reads generated from raw sequencing data before variant detection.

  • Aligned Read Files

    BAM/CRAM files containing sequencing reads aligned to the selected reference genome, including indexed alignment files for downstream analysis and visualisation.

  • Variant Call Files (VCF)

    VCF files containing identified genetic variants, including single-nucleotide polymorphisms (SNPs), insertions/deletions (indels), Copy Number Variation (CNV), and other detected genomic variations.

  • Variant Annotation Report

    Functional annotation of detected variants, including predicted genomic impact, affected genes, coding consequences, and database-based annotation where applicable.

  • Variant Statistics Summary

    Comprehensive summary of variant analysis results, including total variant counts, variant types, genomic distribution, transition/transversion ratio, and quality metrics.

  • Comparative Variant Analysis

    Comparative assessment of genetic variation across samples or groups, including shared and unique variants, genotype distribution, and population-level variant patterns where applicable.

Base Pricing & Turnaround Time

Variant Analysis

Start from: Rp. 300.000 ($ 20) per sample

Start from: 7 days

Add-ons

  • Advanced Variant Analysis

    Structural Variant (SV) Analysis

    Haplotype & Phasing Analysis

    Drug Resistance / Resistance Mutation Screening

  • Comparative & Population Analysis

    Population Genetics Analysis

    Phylogenetic / Evolutionary Variant Analysis

  • Functional & Clinical Interpretation

    Clinical Variant Interpretation

    Pathway & Gene Enrichment Analysis

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