Long read human WGS

Long Read Human WGS

Long Read Human Whole Genome Sequencing

Human Whole Genome Sequencing (WGS) with long-read technology captures DNA in long, continuous stretches, enabling the detection of structural variants, highly repetitive regions, and complex rearrangements that cannot be resolved by short-read sequencing. This approach provides more complete genome assemblies, revealing large insertions, deletions, and other structural variations. Additionally, it enhances haplotype phasing, aiding in the distinction between maternal and paternal alleles and allows simultaneous methylation analysis for epigenetic studies.

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Applications & Services

Our standard Variant Analysis service includes detection and annotation of germline single nucleotide polymorphism (SNPs), insertions and deletions (InDel).
Additionally, we provide optional services such as structural variant analysis, copy number variation, short tandem repeat (STR) expansion genotyping, and 5-methylcytosine (5mC), and 5-hydroxymethylcytosine (5hmC) detection .

Specifications

QC of DNA quantity and quality is performed
Library preparation (amplification-free) including fragmentation to ~20kb fragment length; using v14 library prep chemistry
Sequencing using Oxford Nanopore PromethION (flow cell R10.4.1)
Whole flow cells dedicated to your samples
Approx. 50 - 100 Gb per flow cell (dependent on DNA quality and length), 90 Gb equals 30x coverage. The output is directly dependent on the quantity, quality, and purity of the gDNA sent to us. We do not guarantee any specific output.
We recommend to sequence 1 human sample per flow cell.

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More details

Starting material

Sample Type: purified high-molecular weight DNA, with recommended >50% of the DNA above 15 kb in length*
Purity (OD260/280): 1.8-2.0
Volume: > 50 µL
Concentration: 40 ng/µl using a fluorescence-based method
Minimum Amount: 2µg, recommended 4 µg
Resuspension Buffer: EB, or low TE (<0.1 mM EDTA)
Format: barcode labelled 1.5 ml Eppendorf safe-lock tubes 
Shipment Method: Room temperature

*Please refer to our FAQs for detailed instructions on how to prepare high molecular weight (HMW), double-stranded gDNA.

Important

Please note that only S1-classified material is accepted for DNA isolation ordered online. More information about current classification of biological material can be found here. Please contact us for further information on DNA isolation from material classified as S2.

Deliverables

Raw Nanopore data (.fastq.gz)
Raw Nanopore sequencing data (.pod5) available on request (additional costs)
Additional deliverables for optional bioinfor matics, e.g.
- Variant analysis package:
  - Alignment file (.bam)
  - SNP and InDel tables including annotated variants and effects (.vcf, .tsv, .bed)
  - Comprehensive data analysis report (.pdf, .html)
- Methylation analysis package:
  - unmapped BAM, which includes methylation marks in the form of modified bases.

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