Whole Genome Assembly
De novo and reference-guided genome assembly using short, long and hybrid reads — producing highly contiguous, polished assemblies with quality metrics and annotation.
What we offer
What you receive
Workflow
Sample & QC
Extraction, QC and library prep under documented, standardised protocols.
Sequencing / Processing
Calibrated runs and pipelines on validated platforms.
Bioinformatics
HPC-backed assembly, alignment, variant calling and annotation.
Report & Insight
Publication-ready reports, with a dedicated project manager throughout.
Frequently asked
We accept tissue, whole blood, cell pellets, extracted DNA/RNA and a range of environmental and microbial samples. Our team advises on collection and shipping for each project.
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Tell us your sample type, scope and timelines — we'll respond within one business day.
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Whole Genome Assembly & Annotation
Transform raw DNA sequencing reads into high-quality, fully annotated reference genomes. We specialize in both De Novo and Resequencing approaches utilizing Short-Read and Long-Read Hybrid Pipelines.
Analysis Approaches
1. De Novo Assembly
Reconstructing genomes from scratch without a reference. Ideal for novel species.
- Short-Read: High accuracy contigs.
- Long-Read: Closing gaps and resolving repetitive regions.
- Hybrid Assembly: Combining both for gold-standard reference generation.
2. Resequencing & Variant Calling
Mapping reads to a known reference to identify genetic variations.
- SNP & Indel Calling: AI-enhanced accuracy.
- Structural Variants (SVs): Detecting large insertions/deletions.
Domain-Specific Expertise
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Bacteria & Fungi: Circularization of bacterial chromosomes, plasmid detection, and antiSMASH prediction.
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Plant & Algae: Handling large, highly heterozygous polyploid genomes. Organelle assembly.
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Human & Animal: Clinical exome/genome analysis, ACMG rare disease variant prioritization, and population genomics.
Technical Specification & Platforms
| Technology Type | Instruments Supported | Primary Application |
|---|---|---|
| Short-Read NGS | Illumina (NovaSeq X, NextSeq), MGI (DNBSEQ-T7), AVITI (Element), Thermo Fisher (Ion Torrent) | High-accuracy SNP/Indel calling, polishing contigs. |
| Long-Read TGS | PacBio (Revio, Sequel IIe), Oxford Nanopore (PromethION, GridION), GeneMind (GenoLab M) | Structural variant detection, de novo assembly of repetitive regions, T2T. |
Data Requirements & Quality
- • Input Format: Raw De-multiplexed FASTQ/BAM files
- • Volume / Depth: >30x Coverage (Standard Assembly), >100x (Deep Resequencing)
- • Quality Metrics: Q30 Score > 80% (Short read), N50 > 20kb (Long read)
- • Contamination: < 2% adapter/host read presence
AI Integration & Tools
We move beyond Bayesian statistics by utilizing Google DeepVariant (CNN-based ML) for ultra-high accuracy variant calling. We also deploy Transformer-based models for precise gene prediction and structural annotation.
Commercials & Expected Deliverables
Microbial (Bacteria/Fungi)
Turnaround: 10 - 14 Days
Price per genome. Standard coverage.
Complex (Plant/Animal/Human)
Turnaround: 4 - 6 Weeks
Dependent on genome size & ploidy.
Publication Support
Included with all tiers: Comprehensive methodology write-ups, generation of high-res Circos plots, and guided data submission to NCBI GEO/SRA.