Whole Genome Sequencing (Humans)

Whole Genome Sequencing (Humans)

KKLIU 0685 / EXP 31.12.2026

Whole genome sequencing (WGS) is a comprehensive technique used to determine the complete DNA sequence of an individual’s entire genome. This means it involves decoding all genetic information in an individual’s DNA. The human genome is made up of about 3 billion base pairs of DNAs, and WGS aims to read and assemble this vast amount of genetic information.

Here is an overview of the whole genome sequencing process:

  • Sample Collection:The process begins with the collection of a biological sample, usually a blood sample, saliva, or tissue biopsy. This sample contains the individual’s DNA.
  • DNA Extraction:DNA is extracted from the collected sample. This DNA is typically in the form of long, coiled strands.
  • Library Preparation:The DNA is broken down into smaller fragments and then prepared for sequencing. These fragments are often tagged with unique sequences to help identify where they belong in the genome.
  • Sequencing:Cutting-edge equipment is used to read the sequence of the DNA fragments. There are several methods for DNA sequencing, but one common approach is Next-Generation Sequencing (NGS), which is highly efficient and can process large amounts of data quickly.
  • Data Analysis:The sequenced DNA fragments generate enormous amounts of raw data. Bioinformatics tools and software are used to align, assemble, and analyze this data to reconstruct the complete genome sequence. This process involves identifying individual base pairs, detecting variations, and ensuring the accuracy of the sequence.
  • Variant Calling:One of the key goals of WGS is to identify genetic variations, such as single nucleotide polymorphisms (SNPs) and insertions/deletions (indels). These variations can be associated with genetic traits, diseases, or other characteristics.
  • Interpretation:The identified genetic variations are then interpreted to provide insights into an individual’s genetic makeup. This information can be used for various purposes, including understanding disease risk, drug response, ancestry, and more.

Here are some key applications of whole genome sequencing in humans:

  • Disease Diagnosis and Personalized Medicine:
    • WGS is used to identify genetic variants associated with various diseases, enabling more accurate and early diagnosis of genetic disorders, cancer, and other health conditions.
    • The information obtained from WGS contributes to the development of personalized medicine, where treatment plans are tailored to an individual’s genetic makeup.
  • Cancer Genomics:
    • WGS is applied in cancer research to identify somatic mutations, structural variations, and other genomic alterations associated with the development and progression of cancer.
    • It helps in characterizing the genomic landscape of tumors, guiding the development of targeted therapies and precision medicine approaches.
  • Pharmacogenomics:
    • WGS aids in pharmacogenomic studies, which involve analyzing genetic variations to understand how individuals respond to drugs. This information is crucial for optimizing drug selection and dosages, minimizing adverse reactions, and improving treatment outcomes.
  • Rare Disease Discovery:
    • WGS is instrumental in identifying the genetic causes of rare and undiagnosed diseases. It helps uncover rare variants and mutations that may contribute to specific diseases or conditions.
  • Population Genetics and Ancestry Studies:
    • WGS contributes to population genetics studies, helping researchers understand the genetic diversity and evolutionary history of human populations.
    • It is used for ancestry determination, providing insights into the geographic origins and migration patterns of individuals and populations.
  • Genetic Counseling:
    • WGS data can be used in genetic counseling to assess an individual’s risk for certain genetic conditions, guide family planning decisions, and provide information for informed medical decision-making.
  • Infectious Disease Surveillance:
    • WGS is applied in the surveillance of infectious diseases, helping to track the spread of pathogens, understand transmission dynamics, and identify drug-resistant strains.
  • Forensic Genetics:
    • WGS is used in forensic genetics for human identification, paternity testing, and criminal investigations. It provides highly detailed genetic information that can aid in resolving legal and forensic cases.
  • Public Health Genomics:
    • WGS has implications for public health genomics, providing data for policy decisions, disease prevention strategies, and understanding the genetic factors influencing population health.

In short, WGS enables you to:

  • Identify known and novel disease-causing mutations,
  • Understand genetic predispositions,
  • Personalize medical treatment plans.

WGS has always played a significant role in advancing our understanding of human genetics and has the potential to transform healthcare by enabling precision medicine tailored to an individual’s unique genome and genetics profile.

Getting Started

1. Fill in the enquiry form or contact MGRC at enquiries@mgrc.com.my

2. Tell us about your project and what you would like to achieve.

  • What organism would you like to sequence?
  • Is this a de novo sequencing or resequencing project? If the latter, what reference sequence would you prefer?
  • Do you know the approximate size of the genome?
  • Do you have any information on its genomic content (GC content, repeat regions)?

3. We will contact you to discuss your requirements in greater detail.

Genetic tests and related services are strictly for use by doctors only. Should you have questions about using these tests, please consult your doctor.