Research

Whole Genome Sequencing Services

What Is Research-Level Whole-Genome Sequencing?

Whole-genome sequencing (WGS) is the analysis of large DNA data sets in an attempt to detect single-nucleotide variants, insertions, deletions, copy number changes, and large structural variants. WGS can identify and isolate genetic variations, which is why it is commonly used for research purposes.

In a research setting, WGS can help answer complex questions quickly and accurately. With a wider scope of reference material, whole-genome sequencing helps genome experts develop an understanding of how certain stretches of DNA function and how they are related.

Current Areas of Research Using WGS

genetic linkage graphic

Today, whole-genome sequencing is being applied in the fields of agriculture, infectious disease, immunology, cancer research, synthetic biology, and more, and it’s yielding new insights surrounding reproductive health, organ donor compatibility, and various inherited conditions. At Psomagen, our DNA sequencing for the research setting is available for all species. Psomagen also made clinical human WGS available through CLIA-certification and CAP-accreditation. Translational medicine studies using WGS is quickly growing so that it is easier to identify, diagnose, treat, and prevent disease during the diagnostic stage.

Data Analysis

Our professional staff at Psomagen provides a comprehensive solution for variant gene discovery through two types of analysis, De Novo Sequencing, and Resequencing, which are outlined below.

De Novo Sequencing

De novo sequencing assembles long parallel phases of “novel” genetic material, meaning it codes new DNA without referencing an existing amino acid sequence. This type of whole-genome sequencing is highly accurate and can replicate or complete a blueprint for complex or polyploid genomes.

This primary generation of genetic material is used to spot chromosome deletions, inversions, or translocations, which may indicate the likelihood of a genetic disorder. Researchers use a variety of data analysis methods to obtain information from sequenced stretches of DNA including:

Standard Data Analysis:

  • Consensus Sequence (assembled into contigs)

Advanced Data Analysis:

  • Gene Prediction
  • Gene Annotation

Resequencing

Resequencing a genome implies the comparison of a common genetic sequence to the newly sequenced data. This type of whole-genome sequencing can scan or test for specific genetic variations. Any mutations of the DNA from the standard reference sample will enable new discoveries in a research setting and detection of a patient’s potential for disorders in the clinical setting. There are several methods of data analysis that follow resequencing, including:

Standard Data Analysis:

  • Mapping to the current plant reference genome
  • Analysis of mapping statistics
  • SNPs and InDels calling

Advanced Data Analysis:

Variant annotation:

  • SNPs and InDels are mapped to the current versions of SNV and related genome releases.

Functional annotation:

  • Genes, gene structures, change of amino acids and cross-mapping to public databases. A variety of options for mapping algorithms, variant detection algorithms, annotations, mapping to public databases, group analysis, and case-control analysis.

Sequencing platforms

  • NovaSeq6000 S4 System
  • HiSeqX X System
  • HiSeq2500 / MiSeq System

Applications for WGS Research

WGS in Human Health

WGS research has come a long way in improving medicine, and already, it has been used to:

  • Study and identify variant genes in order to make better-informed medical decisions and advance treatments and technology
  • Identify mysterious human remains with physical deformities that resulted from genetic mutations 
  • Uncover the role of non-coding genomes in the onset and development of autism
  • Discover the causes of epilepsy and improve treatment methods
  • Trace a national E. coli breakout in romaine lettuce
  • Match donated blood more precisely from donor to patient to improve the practice of transfusion medicine
  • Uncover the uncommon cancer-causing mutations in child patients at St. Jude’s Research Hospital
  • Chart the evolution of a diseased person to prevent their disease from worsening
  • Teach patients which environmental or lifestyle factors will heighten their chances of developing a disease or further progressing their symptoms
  • Discover methods of cancer development and uncover therapeutic treatments
  • Find new resources for drugs and manufacture more potent antibodies

WGS in Agrigenomics

Scientists have begun to take a genetic-focused approach to agricultural productivity, viability, and nutrition. This specific application of genomics in agriculture is referred to as agrigenomics. Those who study this branch of genomics seek to find solutions to the increasing demands on the world food supply as a result of population growth and changing weather patterns.

Whole-genome sequencing, specifically, can be applied to the study of defective genes and diseases in cattle, sheep, pigs, and more. It can help researchers learn about crops and plant biology, allowing farmers to make better-informed decisions and consumers to have a better understanding of the food they’re eating.

a researcher feeding cattles

WGS in Plant Genetics

Our method of disease treatment and production of food, chemicals, and energy can be benefited hugely by biologically engineered solutions. The data found in plant DNA is being used to produce medicines, biofuels, and materials such as cotton and timber. The insight provided by WGS can identify beneficial traits, facilitate breeding, and improve a diverse range of production and conservation efforts around the world.

Research WGS Services

Join Psomagen in the quest for discovery through research WGS by requesting our services today. We offer de novo sequencing and resequencing for variant discovery.

Find Out How WGS Research Can Benefit You

Get in touch with Psomagen today to learn about our research WGS services and how they can assist in furthering your research in your field. Contact us at (301) 251-1007or send us a message to request further information.

Inquire About Our Whole Genome Sequencing Services