Genomics Division

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

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.

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.

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.

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)