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.
Final Data Deliverables
Cleaned FASTQ files & QC Reports (FastQC/MultiQC)
Assembled Genome (FASTA) & Quality Metrics (N50, BUSCO)
Fully Annotated Genome (GFF3, GBK, Protein FASTA)
Variant Files (VCF) and Annotation (SnpEff/VEP)
Get Started with Whole Genome Assembly
Accelerate your genomics research with our highly accurate genome assembly and annotation pipelines.
Technical Specification & Platforms
Short-Read NGS
Instruments: Illumina (NovaSeq X, NextSeq), MGI (DNBSEQ-T7), AVITI (Element), Thermo Fisher (Ion Torrent) Application: High-accuracy SNP/Indel calling, polishing contigs.
Long-Read TGS
Instruments: PacBio (Revio, Sequel IIe), Oxford Nanopore (PromethION, GridION), GeneMind (GenoLab M) Application: Structural variant detection, de novo assembly of repetitive regions, T2T.
Requirements & Integration
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. Tools: SPAdes, Flye, Canu, Hifiasm, BWA-MEM, Pilon, GATK4, DeepVariant, Prokka, MAKER.
Commercials & Expected Deliverables
Microbial (Bacteria/Fungi)
₹5,000 - ₹9,000 Turnaround: 10 - 14 Days Price per genome. Standard coverage.
Complex (Plant/Animal/Human)
₹9,000 - ₹15,000+ 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.
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
Bacteria & Fungi: Circularization of bacterial chromosomes, plasmid detection, and antiSMASH prediction.
Plant & Algae: Handling large, highly heterozygous polyploid genomes. Organelle assembly.
Human & Animal: Clinical exome/genome analysis, ACMG rare disease variant prioritization, and population genomics.