Human Whole Genome Sequencing
Human whole-genome sequencing reveals germ-line variants for rare-disease diagnosis and population genetics, charts evolution via ancient DNA, and decodes tumour mutations for precision oncology. It also verifies CRISPR edits, anchors functional-omics assays, and aids forensic identification—making WGS central to modern genomic medicine.
Specifications
Local & DNA QC | Included |
Library Prep | TruSeq PCR-free/TruSeq Nano DNA, 350bp |
Sequencer | Novaseq X |
Read Specs | 150 paired-end, 90 GB or 120 GB |
Data Output | Raw FASTQ file - Available via Cloud Storage |
Basic Analysis Output | Package A: Isaac.v4 - Mapping, Variant Calling(SNP/Indel), CNV(Control-FREEC), SV(Manta) OR DRAGEN.v4.0.3 - Mapping, Variant Calling(SNP/Indel) |
Advance Analysis | Please enquire |
Whole Exome Sequencing
Whole-exome sequencing (WES) reads the ~20 000 genes, providing a way to pinpoint pathogenic variants behind rare Mendelian disease, pharmacogenomic traits and many cancers. High exon coverage sharpens SNP and small-indel calls, enables quick expansion as new genes emerge, and supports tumour-normal analyses for actionable drivers. WES also fuels population studies of variant burden, informs drug-target discovery and acts as a first-line screen before genomes.
Specifications
Local & DNA QC | Included |
Library Prep | SureSelect V6 |
| Sequencer | NovaSeqX |
| Read Specs | 100 paired-end, 100X or 200X |
Data Output | Raw FASTQ file - Available via Cloud Storage |
Basic Analysis Output | Package A: BWA-GATK.v3 2016 - Mapping, Variant Calling (SNP/InDel), Annotation |
Advance Analysis | Please enquire |
RNA Sequencing
Whole-transcriptome sequencing (RNA-seq) profiles all coding and non-coding RNAs in a sample, capturing gene-expression levels, alternative splicing, fusion transcripts and RNA editing in one assay. High read depth quantifies differential expression across conditions, while paired-end or long reads delineate isoforms and novel lncRNAs. In cancer, RNA-seq reveals oncogenic fusions and immune-signature predictors; in rare disease, it unmasks splice-altering variants missed by DNA tests
Specifications
Local & RNA QC | Included |
Library Prep | TruSeq stranded mRNA, TruSeq stranded Total RNA |
Sequencer | NovaseqX |
Read Specs | mRNA-Seq: 100 paired-end (60M reads), 150 paired-end (40M reads) Whole Transcriptome: 100 paired-end (100M reads), 150 paired-end (40M reads) |
Data Output | Raw FASTQ file - Available via Cloud Storage |
Basic Analysis Output | Mapping, Expression profile, per Sample |
Advance Analysis | DEG (read count), Functional Annotation (GO) - Default : include DEG Viewer per pair of comparison |
Metagenome Sequencing
Shotgun metagenomic sequencing reads every DNA fragment in an environmental or host sample, charting community composition and each microbe’s gene arsenal. Deep coverage rebuilds genomes, flags antibiotic-resistance and virulence genes, and maps metabolic pathways shaping gut, soil or wastewater ecology. Public-health teams track outbreak strains and AMR spread, while biotech mines novel enzymes and metabolites. Uniting taxonomic and functional views in one assay, metagenomics gives a systems-level portrait unmatched by amplicon or culture methods
Specifications
Local & NA QC | Included |
Library Prep | TruSeq Nano DNA |
Sequencer | NovaSeqX |
Read Specs | Shotgun: |
Data Output | Raw FASTQ file - Available via Cloud Storage |
Basic Analysis Output | Shotgun Metagenome Package A: Taxonomy profiling, Diversity(alpha,beta), per Sample Package B: Taxonomy profiling, Diversity(alpha,beta), Gene Family, Pathway, per Sample Amplicon Metagenome ASV : ASV-rep.seq(fasta), Taxonomy abundance, Diversity(alpha,beta), per Sample |
Advance Analysis | Please enquire |
Our service catalogue extends well beyond standard whole-genome, exome, transcriptome and metagenome workflows. We offer solution for single-base resolution of epigenetic markers and to pinpoint transcription-factor or histone occupancy. Complementary options such as small-RNA sequencing for miRNA discovery, immune-repertoire sequencing to track T- and B-cell diversity, long-read sequencing for gap-free assemblies or full-length isoforms, plus comprehensive metagenomic and amplicon microbiome assays, round out a truly end-to-end NGS toolkit.
Every project is paired with bespoke bioinformatic pipelines—variant calling, differential expression, epigenetic landscape reconstruction, microbial community typing or immune-clonotype analysis—tailored to your experimental design and downstream interpretation needs. Speak with our scientists to craft a sequencing and data-analysis solution that aligns precisely with your research goals, sample constraints and budget.
(a) Methyl-Seq (bisulfite or enzymatic)
(b) ChIP-seq (protein–DNA interaction mapping)
(c) ATAC-seq (chromatin accessibility)
(d) Targeted gene-panel sequencing
(e) Small RNA-seq (miRNA, siRNA, piRNA)
(f) Immune-repertoire (TCR/BCR) sequencing
