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Omics Research // Genomics

Whole-Genome Sequencing

Identify all changes within both coding and non-coding regions and chromosomal abnormalities in one quick and easy massively parallel next-generation sequencing workflow.

What Is Whole-Genome Sequencing?

Whole-genome sequencing (WGS) is the process of determining the order of bases (adenine, guanine, thymine, or cytosine) of all DNA in any living organism. WGS is the preferred method to identify chromosome abnormalities through copy number variations and other structural variations.

This can be achieved from a single sample using a single, massively parallel process known as next-generation sequencing (NGS). It is often used in discovery and exploratory studies, as well as in clinical applications.


Why Is Whole-Genome Sequencing Important?

The ability to characterize an entire organism’s genome offers possibilities in all fields of science. WGS aids research in infectious disease, microbiology, immunology, inherited disease, oncology, reproductive health, forensics, and more.

It can be used to identify new disease targets, diagnose inherited disorders, and help predict who will benefit from a given therapy.

Unsure what you're hoping to find? WGS gives you insight into genome-wide changes, offering the broadest range of coverage.

What Can You Do?

Process Both RUO and Clinical Samples

Access both research-use-only and CAP/CLIA services.


Get Analytics & Bioinformatics

Maximize insights with our dedicated bioinformatics team and numerous analysis options.


Offer Precision Medicine

Introduce new ways to prevent, diagnose, and treat disease on a personalized level.

Technologies Used for Whole-Genome Sequencing

DNA Resequencing

Best for

Aligning WGS data with a previously known reference sequence and gene annotation data


Whole-genome mapping and annotated reporting with a much more straight forward data analysis workflow

Low-Pass Sequencing

Best for

WGS at a lower sequencing depth, typically targeting 0.5-1X coverage of the genome; used in genome-wide association studies (GWAS), high-throughput population screening methods, and polygenic risk score calculation


Simplified library preparation and reduced sequencing depth for reduced costs and a high-level, genome-wide screen

Long-Read Sequencing

Best for

Increase the power of your genomic studies by using PacBio's Sequel IIe to build your de-novo assembly of prokaryotic and eukaryotic genomes


Capacity to sequence on average over 10 kb in one single read

Clinical Whole-Genome Sequencing

Best for

CLIA-certified, CAP-accredited assay validated to provide human genome-wide sequencing data for use with clinical samples


High-quality library preparation with or without amplification, a 30X mean depth of coverage, and clinically relevant, annotated gene reports

De Novo Sequencing

Best for

Sequencing and assembling genetic material without an existing reference sequence


The consensus sequence is used in advanced data analysis such as gene prediction and annotation

On-Going Promotions

We're always adding new deals — check in often for updated promotions!


Whole-Genome Sequencing Best Practices

Sample Preparation & DNA Extraction

DNA extraction from blood, cultured cells, tissue, FFPE, saliva, and swab for research use

Blood, saliva, and gDNA are acceptable for For CLIA processing

Get your high-quality genomic DNA isolated from most sample types at Psomagen.

Sample Requirements

Flexible input depending on the library type

Short-Read Library

  • 100-200ng with PCR-plus library, 500-1000ng with PCR-free library
  • DNA concentration ≥ 20 ng/μl
  • DIN ≥ 7.0 for non-FFPE, DIN ≥ 4.0 for FFPE

Long-Read Library

  • 8.1ug of high molecular weight (HMW) gDNA for PacBio HiFi Library (avg. size 25K)
  • DNA concentration ≥ 50 ng/μl
  • DIN ≥ 8.0

Library Preparation

Short-Read Library

  • TruSeq DNA Nano (350bp, 550bp)
  • TruSeq DNA PCR-Free (350bp, 550bp)
  • Nextera DNA flex library preparation
  • KAPA library preparation
  • SeqWell plexWell™ library prep
  • Twist 96-Plex Library Prep

Long-Read Library

  • PacBio HiFi Library
  • PacBio SMRTbell Library

Sequencing Depth & Read Length

Short-Read Sequencing

  • Instrumentation: Illumina NovaSeq 6000 or HiSeqX or NovaSeq X Plus
  • 2 x 151 bp read length
  • Custom sequencing coverage

Long-Read Sequencing

  • Instrumentation: PacBio Sequel Ile
  • Custom sequencing coverage

Bioinformatic Analysis

Basic analysis:

  • Data quality control
  • Mapping (ISAAC or BWA-GATK pipelines)
  • Variant analysis (SNP/InDel)

Advanced analysis:

  • Structural variant (SV)
  • Copy number variation (CNV)
  • Annotation and statistics
  • Family trio analysis
  • Insertion site prediction
  • Joint genotyping
  • Tumor-normal paired analysis
  • Custom analysis

Data Delivery

All sequencing run data is delivered as demultiplexed .fastq files

When an entire flow cell or lane is purchased, raw data can be delivered as BCL files if requested at the time of purchase

Why Our Clients Choose Psomagen


Superior Data Quality

Exceeds manufacturer benchmarks


Fast Turnaround

Starting at one week for sequencing projects


US-Based Processing

Sequencing and customer support in Rockville, MD


Ph.D. Level Support

Expert assistance every step of the way, with real-time project updates through our online system


Automated Workflows

Increase scalability and improve reproducibility


CLIA-Certified, CAP-Accredited Labs

Clinical research options available (inquire for more information)


Complete Sequencing Solutions

From extraction to data analysis, with many sample types accepted

Quotes From Our Clients

Being able to generate my own libraries and submit them as a single pool without having to pay for individual sample QC (just 1 QC for the pool I create), let us go from sequencing dozens of samples to 100s of samples and still save $1,000s compared to on campus facilities. That we get the results back faster than we do for on campus work is just icing on the cake.

Zhijun Duan

University of Washington

The NGS services in Psomagen Inc are high-quality, cost-effective and often with quick turn-around-time! People in Psomagen are also very responsive!

Ken Mills

Holy Cross

We're Ready for Your Order!

Here's what to expect in your project's life cycle. If you have a question during sequencing, it's easy to get in touch!


Request a Consultation

Create an account through our client portal and get in touch with your local field team to start designing a project.

We’ll help drive your research forward with the right tools for your research needs.


Place an Order

After finalizing the scope of work, the official quote will be issued for signing. Then, your sales representative will send specific shipping instructions.

Once all the samples and necessary documents are ready, we can start your project. Need more analysis? Reach out to our bioinformatics experts to dig deeper.


QC and Data Delivery

All Psomagen sequencing projects come with a built-in QC step to ensure you get the information you need. An account manager will update you on your project's progress in a timely manner.

You can also see some project information and securely view all valid reports on the client portal site.

A chromosome-level reference genome and pangenome for barn swallow population genomics
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program
First complete mitochondrial genome of the Saharan striped polecat (Ictonyx libycus)