Newest Whole Genome Sequencing Trends in 2024

At a glance:

• Overview of Genome Sequencing
• Meaning of Whole Genome Sequencing
• Whole Genome Sequencing Application
• Whole Genome Sequencing VS Whole Exome Sequencing
• The Workflow of Whole Genome Sequencing
• Benefits and Risks of Whole Genome Sequencing
• Cost of Whole Genome Sequencing in 2024
• Section 3 FAQ

Overview of Genome Sequencing

Genome sequencing refers to identify the nucleotide sequence of an organism's genome and enable the interpretation of the genetic information. Genome sequencing contains both whole-genome sequencing (WGS) and whole-exome sequencing (WES). WGS encompasses the entirety of an organism's genome, including all genes, regulatory regions, and non-coding regions, providing access to all genetic information contained within the organism. Consequently, WGS can identify various genetic variations, including small nucleotide variations, insertions, deletions, as well as larger structural variations and copy number variations.In contrast, WES focuses solely on sequencing the protein-coding regions of the genome, representing a smaller sequencing scope. WES enables the direct identification of genetic variations within genes encoding proteins, including single nucleotide variants (SNVs), insertions, deletions, and copy number variations (CNVs). As exonic regions constitute only 1.5%-2.0% of the genome, WES is comparatively simpler than WGS, generating less data and facilitating easier bioinformatic analyses.The continual advancement of genome sequencing technologies provides robust tools and data platforms for genomic research and medical diagnostics.

Meaning of Whole Genome Sequencing

Genomes encode all genetic information within an organism, making WGS crucial in deciphering this biological blueprint. WGS reveals the complete sequence of nucleotides in an organism's genome, and bioinformatics analysis of these data aids in exploring various aspects such as the origin and evolution of organisms, uncovering genetic diversity, and identifying essential functional genes. While earlier studies primarily focused on protein-coding regions, advancements have highlighted the significance of non-coding sequences in genetic processes, rendering whole-genome sequencing indispensable. By providing comprehensive genetic information spanning coding and non-coding regions, WGS offers robust support for diverse fields of basic scientific research and medical diagnostics.

Whole Genome Sequencing Application

The continuous advancement of scientific technology and the decreasing cost of sequencing have propelled the widespread adoption of WGS across diverse fields. CD Genomics, a prominent biological platform, boasts extensive expertise in the realm of biology. Leveraging cutting-edge high-throughput sequencing technologies, we deliver comprehensive genome sequencing services catering to animals, plants, microorganisms, and humans. Our platform facilitates the rapid generation of substantial genomic datasets, upheld by meticulous data assessment protocols to ensure accuracy. Through our tailored bioinformatics analyses, we furnish robust technical support for fundamental scientific inquiries and medical diagnostics. The ensuing are specific applications of whole-genome sequencing across various domains:

Agricultural Research: By conducting whole-genome sequencing of crops and livestock, researchers can identify variant sites, which, combined with bioinformatics analysis, enable the identification of genes related to agronomic traits or critical functional genes. This process aids in breeding improvement and selection. For instance, through the analysis of whole-genome data and RNA sequencing data from cultivated and hybrid rice, researchers have identified key regulatory factors involved in rice flowering response. Furthermore, analyzing the whole-genome sequences of different germplasm resources reveals the genetic basis of crops and livestock in adapting to various environmental conditions. This facilitates the protection and rational utilization of endangered and wild species, thereby promoting the sustainable utilization of plant and animal resources.

Biodiversity Research: WGS and analysis of different species reveal their genomic diversity. For instance, sequencing the whole genomes of multiple sorghum germplasms enables the identification of genetic variations, including single nucleotide polymorphisms, insertions, deletions, and copy number variations. This data supports the construction of sorghum genetic maps and contributes to crop improvement efforts. Whole-genome sequencing facilitates the assessment of genetic differences and diversity levels among individuals and populations, unveiling their genetic diversity. Consequently, it provides a robust tool and methodology for gaining deeper insights into biodiversity.

Genomics Research: Whole-genome sequencing serves as the cornerstone of various genomic studies, involving the sequencing and assembly of genomes from diverse organisms. In human genomics research, whole-genome sequencing facilitates the discovery of significant genetic variations, with elucidating the functionality of these variations constituting a crucial aspect of human genetics research. In the study of animal and plant genomes, intra-species genome comparisons reveal patterns of genome evolution, while inter-species genome sequence comparisons unveil their origins and evolutionary relationships.

Microbiology Research: Whole-genome sequencing provides a pathway for microbial identification based on genomic analysis. By sequencing the entire genome of microorganisms, it becomes possible to identify individual strains from mixed readouts, enabling the identification of specific pathogens or plasmids with multidrug resistance within particular environments. Moreover, performing whole-genome sequencing on microbial populations facilitates classification and aids in gaining deeper insights into their genetic diversity, population structure, and evolutionary dynamics, thereby exploring the distribution, migration, and adaptability of microorganisms in various environments.

Medical Research: WGS is widely utilized in medical research, encompassing areas such as medical diagnosis, genetic testing, and cancer research. By sequencing the entire genome, WGS can detect all pathogenic variants, including single-gene disorders, chromosomal abnormalities, and complex genetic diseases, thereby providing diagnostic evidence for diseases with unclear family history. For example, WGS can be employed in detecting diseases such as Batten's disease, pulmonary arterial hypertension, and atypical hemolytic uremic syndrome. Additionally, through WGS of tumor and normal tissues from cancer patients, the causative genes, mutations, and carcinogenic mechanisms of cancer can be identified, thereby serving as a basis for personalized therapy and precision medicine.

Whole Genome Sequencing VS Whole Exome Sequencing

The Workflow of Whole Genome Sequencing

Benefits and Risks of Whole Genome Sequencing

WGS results encompass all genetic information within the genome, enabling the identification of various genetic variations. This capability contributes to unraveling genetic diversity and its applications in fields such as agriculture, microbiology, and medicine. However, like any tool, WGS has both benefits and potential risks that warrant consideration.On the positive side, WGS facilitates significant advancements in research. Nevertheless, it's crucial to acknowledge and address the technical and ethical concerns associated with WGS. Due to the vast amount of data generated by WGS, issues such as data redundancy and meaningless fragments pose challenges for effective data mining.Ethically, WGS raises privacy concerns and other socio-ethical issues such as social stigmatization, as well as implications for insurance and employment. It's essential to navigate these ethical considerations responsibly.In summary, while WGS drives research progress, it's imperative to approach it with a balanced perspective, acknowledging its benefits while proactively addressing its challenges and ethical implications.

Cost of Whole Genome Sequencing in 2024

With the continuous development of sequencing technologies, the cost of whole-genome sequencing has progressively decreased. The pricing of whole-genome sequencing varies based on the sequencing platform and depth utilized. As a comprehensive biological platform, CD Genomics is committed to delivering high-quality sequencing services. Beyond sequencing outcomes, CD Genomics also offers efficient, comprehensive, and personalized analyses, thereby providing crucial technical support for genomic research across diverse domains.

Section 3 FAQ

1. What is the purpose of genome sequencing?

The arrangement of bases in the genome contains all the genetic information of an organism, and genome sequencing aims to determine the sequence of bases in the genome to unravel the mysteries of inheritance. Depending on the specific research needs, different sequencing approaches can be chosen. Whole-genome sequencing is used to study genetic variations in both coding and non-coding regions, and it finds wide applications in agriculture and microbiology research. As research reveals the importance of non-coding regions in inheritance, whole-genome sequencing is also extensively utilized in medical research. On the other hand, whole-exome sequencing focuses on genetic variations in the protein-coding regions of the genome. It offers a narrower scope and lower cost compared to whole-genome sequencing, making it suitable for studies targeting only coding regions. Therefore, it is widely used in medical research.

2. How accurate is whole genome sequencing?

The accuracy of sequencing is influenced by sequencing technology, sequencing depth, and the complexity of the genome. Whole-genome sequencing platforms primarily comprise second-generation sequencing platforms (such as Illumina) and third-generation sequencing platforms (including Oxford Nanopore and PacBio SMRT). Second-generation sequencing technology offers high throughput, short read lengths, and high accuracy. However, due to the presence of PCR amplification during sequencing, the error rate is somewhat elevated. In contrast, third-generation sequencing technology eliminates the need for PCR amplification, providing longer read lengths and reducing errors associated with PCR amplification. Nonetheless, third-generation sequencing exhibits a higher error rate at the base level. In summary, by judiciously selecting sequencing technology and depth according to specific requirements, relatively accurate results can be obtained.

3. What is the difference between NGS and whole genome sequencing?

WGS is an analytical approach involving the sequencing and analysis of an organism's entire genome, while NGS (Next-Generation Sequencing) refers to a sequencing technology that encompasses both short-read and long-read sequencing methods. NGS not only enables whole-genome sequencing but also facilitates transcriptomics, epigenomics, metagenomics, and other omics studies.