Human whole-genome resequencing (WGS) offers broad detection of human genetic variation. Because it covers both coding and non-coding regions, single-nucleotide variants (SNVs/SNPs), small insertions and deletions (InDels), copy-number variants (CNVs) and structural variants (SVs) can all be detected.
Data analysis is carried out by our bioinformatics team and reviewed by senior bioinformatics experts before delivery; see genome variant analysis for details.
Typical turnaround (sequencing + standard analysis): 20–30 working days, as stated in the written plan.
1. Sequencing depth: 30X for population cohorts, 60X for disease research, 90X+ for tumour studies.
2. Standard analysis: alignment to the reference genome (hg19/hg38), followed by variant calling, filtering and QC according to GATK Best Practices.
3. Variant annotation (research use): population frequencies and known pathogenicity records from dbSNP, 1000 Genomes, ClinVar and OMIM, organised by ACMG class for research reference. Clinical interpretation must be performed by an accredited institution.
Sequencing is performed in our laboratory and at partner sequencing platforms. Duplication rate, Q30 and other QC metrics of delivered data follow the typical delivery specification below; contractual values apply.
Deliverables include a sequencing QC report, coverage distribution plots and variant-calling statistics.
| Metric | Typical delivery specification |
|---|---|
| Base quality (Q30) | ≥ 85% |
| Mapping rate | ≥ 98% |
| Duplication rate | ≤ 3% |
| Coverage uniformity (Fold-80 penalty) | ≤ 1.4 |
Please prepare and ship DNA samples according to the following requirements:
| Sample type | Total amount | Concentration | Purity (OD 260/280) | Shipping conditions |
|---|---|---|---|---|
| Genomic DNA (from blood or tissue) | ≥ 1.0 µg | ≥ 20 ng/µL | 1.8–2.0 (no RNA contamination or degradation) | Ship on dry ice; avoid repeated freeze–thaw cycles |
| Whole blood (EDTA tubes) | ≥ 2.0 mL | - | - | Ship at 4°C with ice packs; to arrive within 24 hours |
| Saliva / buccal swab | As specified for the collection tube | - | - | Room temperature, or 4°C with ice packs |
Human whole-exome sequencing (WES) targets the protein-coding regions, which make up about 1–2% of the genome but contain roughly 85% of known disease-associated variants. This makes WES a cost-effective approach for genetic research and large cohort studies.
Data analysis is carried out by our bioinformatics team and reviewed by senior bioinformatics experts before delivery; see genome variant analysis for details.
Typical turnaround (sequencing + standard analysis): 15–25 working days, as stated in the written plan.
Standard exome capture panels are supported; the panel is chosen per project.
1. Mendelian disease research (trios): the proband and both parents are sequenced to filter for recessive, dominant or de novo variants.
2. Tumour somatic variants: deep exome sequencing of paired tumour and adjacent normal tissue to identify somatic mutations, including candidate drivers.
3. Large cohorts: cost-efficient coding-variant profiling across many samples.
Deliverables include standard VCF files, with variants annotated against ClinVar, OMIM and 1000 Genomes and organised by ACMG class for research reference (clinical interpretation must be performed by an accredited institution).
| Capture kit | Mean depth | Target coverage at ≥10X | On-target rate |
|---|---|---|---|
| Exome capture, approx. 58 Mb | ≥ 100X | ≥ 99.0% | ≥ 65% |
| Exome capture, approx. 36 Mb | ≥ 100X | ≥ 98.5% | ≥ 60% |
Exome capture requires intact DNA. Please refer to the following requirements:
| Sample type | Minimum amount | Concentration | OD 260/280 | Shipping |
|---|---|---|---|---|
| High-purity genomic DNA | ≥ 500 ng | ≥ 10 ng/µL | 1.8–2.0 (clear main band on agarose gel) | On dry ice or −20°C ice packs |
| FFPE sections | 5–10 sections (10 µm thick) | - | - | Sealed, protected from light, at room temperature |
For plant and animal species without a reference genome, we combine long-read sequencing (PacBio HiFi or Nanopore) with short-read sequencing and Hi-C chromatin conformation capture to produce chromosome-scale de novo assemblies, followed by genome annotation and comparative and evolutionary genomics analysis.
Data analysis is carried out by our bioinformatics team and reviewed by senior bioinformatics experts before delivery; see genome assembly and population analysis for details.
Typical turnaround (sequencing + standard analysis): 30–45 working days, as stated in the written plan.
1. HiFi long reads: PacBio HiFi (CCS) reads of 15–20 kb with >99% single-molecule accuracy span most repetitive and GC-rich regions.
2. Hi-C scaffolding to chromosome scale: chemical cross-linking captures spatial contacts within chromatin; based on these contacts, contigs are clustered, ordered and oriented and anchored to chromosomes.
3. Genome annotation: gene models are predicted by combining homology-based, ab initio and transcriptome evidence, together with transposable element annotation and phylogenetic analysis of gene families.
Deliverables include an assembly quality report (BUSCO completeness, contig N50), Hi-C contact heatmaps and genome annotation files in GFF3 format.
| Metric | Method | Typical delivery specification |
|---|---|---|
| Contig N50 | PacBio HiFi sequencing | ≥ 1.0 Mb (depends on genome size, heterozygosity and repeat content) |
| Hi-C anchoring rate | Hi-C scaffolding | ≥ 95% of assembled sequence anchored to chromosomes |
| BUSCO completeness | Conserved single-copy orthologues | ≥ 95.0% (complete conserved eukaryotic genes) |
| Base accuracy | Polishing with short reads | ≥ 99.999% (QV50 or above) |
Long-read sequencing requires high-molecular-weight (HMW) DNA. Please check DNA integrity by pulsed-field or agarose gel electrophoresis before shipping:
| Sample type | Total DNA | HMW DNA integrity (gel / pulsed-field check) | Sampling advice | Shipping |
|---|---|---|---|---|
| Fresh plant tissue (young leaves/etiolated seedlings) | HMW DNA ≥ 5.0 µg after extraction | > 70% of DNA ≥ 40 kb | Keep plants in the dark for 24–48 h before sampling to reduce starch and polysaccharides | Snap-freeze in liquid nitrogen; ship sealed on dry ice |
| Animal muscle or blood (healthy individuals) | HMW DNA ≥ 3.0 µg after extraction | > 70% of DNA ≥ 30 kb | Avoid fat, connective tissue and gut samples where possible | Snap-freeze; ship sealed on dry ice |
Microbial communities play important roles in human health, soil ecosystems and industrial fermentation. We offer sequencing and analysis for complete genomes of single isolates, amplicon projects and metagenomic projects.
Data analysis is carried out by our bioinformatics team and reviewed by senior bioinformatics experts before delivery; see metagenomic and amplicon analysis for details.
Typical turnaround (sequencing + standard analysis): 15–25 working days, as stated in the written plan.
1. Amplicon sequencing (16S/18S/ITS): PCR amplification and sequencing of the bacterial 16S rRNA V3–V4 region, or the fungal 18S or ITS region; a low-cost, fast way to profile community composition and diversity.
2. Metagenomic sequencing: total DNA is extracted from samples such as soil, faeces or water and sequenced by shotgun sequencing. Without culturing, this profiles bacteria, archaea and viruses as well as functional genes such as carbohydrate-active enzymes (CAZy) and antibiotic resistance genes (ARGs).
3. Complete bacterial genome: hybrid assembly of Nanopore long reads and short reads (used for error correction), aiming to close the circular chromosome and plasmids.
Deliverables include ASV/OTU abundance heatmaps, alpha rarefaction curves, PCA/PCoA ordination plots and, for metagenomes, KEGG/eggNOG functional annotation profiles.
| Service | Recommended data volume | Main deliverables |
|---|---|---|
| Amplicon sequencing (16S/ITS) | ≥ 50k Reads/sample | Taxonomic abundance bar charts, alpha/beta diversity, Venn diagrams, LEfSe biomarker analysis |
| Environmental metagenomics | ≥ 6 Gb/sample | Taxonomic profiles, antibiotic resistance genes (CARD), CAZy annotation, KEGG pathway enrichment |
| Complete microbial genome (bacteria/fungi) | 0.5 Gb short-read + 1.5 Gb long-read | Gap-free chromosome and plasmid assemblies (where achievable), circular genome map, gene family clustering |
Requirements differ by sample type. Please follow the table below and avoid contamination during collection and shipping:
| Sample type | Amount | Collection and storage | Shipping |
|---|---|---|---|
| Faeces (human, animal or environmental) | ≥ 200 mg/sample | Collect in a sterile tube or a stool stabilisation tube | Snap-freeze in liquid nitrogen or on dry ice; ship sealed on dry ice |
| Soil / sediment | ≥ 2.0 g/sample | Remove surface debris and plant litter; pack in sterile cryotubes | Ship on dry ice; keep out of direct sunlight and do not allow to thaw |
| Pure culture (slant or liquid culture) | 2.0 mL fresh liquid culture, or an agar slant | Use actively growing cultures in log phase. Do not send highly pathogenic or multidrug-resistant strains without prior agreement. | Ship at 4°C with ice packs to keep the strain viable |