Under the framework of pan-genome research, core genome analysis is the core method in population genomics. It focuses on the set of genes present in all (or a defined high percentage, e.g., ≥95% or ≥99%) of the analyzed strains within a species, representing its basic genetic blueprint. By analyzing these highly conserved core genes among different strains, researchers can define species boundaries, clarify fundamental evolutionary relationships, and trace stable vertical inheritance. This analysis provides a solid foundation for understanding population structure, tracking long-term transmission paths, and identifying highly conserved targets for intervention research targets, thereby offering key insights into the genetic stability and functional backbone of bacterial populations.
We offer comprehensive core genomic analysis solutions to empower your pan-genome population genomics research. By precisely identifying and analyzing the conserved genetic skeletons in the strains you have collected, we provide you with core insights into population structure, evolutionary dynamics, and stable phylogenetic relationships. Our services transform complex genomic data into actionable biological knowledge, laying a solid foundation for epidemiological tracking, species classification, and the discovery of highly conserved targets.
Our core genomic analysis services offer you the following key advantages:
Core genome analysis is a methodological approach in pan-genome research, focusing on analyzing the set of genes shared by all individuals within a specific population or species. This method constructs a stable genetic framework by identifying and analyzing these shared conserved sequences. Because it filters out variable accessory genes, thereby revealing the essential genetic backbone of a species, it is of fundamental significance for determining reliable phylogenetic relationships, understanding population structure, and tracing long-term evolutionary history.
To ensure the high reliability and robustness of the core genome analysis, we implement a strict and standardized workflow from sample origin. A defined genetic framework built from shared, conserved sequences requires input data of the highest consistency and quality.
Based on your specific research goals (e.g., phylogenetic inference, population genetics), we design professional sampling strategies covering cohort size and diversity. Acceptable sample types include fresh or frozen tissues, whole blood, saliva, or microbial isolates, with preference for samples of high molecular integrity (avoiding long-term or improperly preserved specimens). We provide customized collection protocols to standardize this critical first step.
From initial collection to sample stabilization, the entire process utilizes standardized operating procedures (SOPs) and professional reagents. Samples are aliquoted and preserved appropriately (e.g., with stabilizers or immediate freezing) to protect nucleic acid integrity. Strict cold-chain logistics and comprehensive information traceability management are implemented throughout transportation. Required sample amounts are as follows:
Prior to analysis, all samples undergo rigorous QC checks to ensure data professionalism and authenticity, which is fundamental for defining a stable core genome.
High-Quality Genome Sequencing & Assembly: For novel isolates, we employ long-read and/or high-coverage short-read sequencing to produce complete, closed genomes or high-quality draft assemblies. This is crucial for accurate pan-genome construction.
Whole-Genome Resequencing: For population studies, we utilize WGS to comprehensively capture genetic variations across all samples. Compared to targeted methods, WGS is essential for unbiased identification of core and accessory genomic regions, forming the basis for a comprehensive pan-genome.
Pan-Genome Construction & Core Genome Identification: We begin by annotating all input genomes and clustering their predicted genes into ortholog groups. This defines the species pan-genome. From this, we precisely identify the core genome—the set of genes present in all (or a defined high threshold of) studied isolates, which forms the stable backbone for downstream analysis.
Core genome alignment and SNP detection: We perform multiple sequence alignments on the identified core genomic regions. From this comparison, we extracted high-quality single nucleotide polymorphisms (SNPS) with phylogenetic information and filtered out recombination regions to ensure the clarity of the signal.
Population Genomics and Evolutionary Analysis: Based on the SNP matrix of the core genome, we conduct in-depth population genetic analysis. This includes constructing high-resolution phylogenetic trees, clarifying population structure (for example, through PCA or ADMIXTURE models), and inferling evolutionary relationships and propagation dynamics within the population.
Selection Pressure & Functional Analysis: We analyze the core genome for signatures of natural selection. By calculating metrics like dN/dS ratios across core genes, we identify genes under purifying or positive selection, linking evolutionary pressures to essential biological functions.
Figure 1: How We Deliver This Solution: Core Genome Analysis Workflow
Strict data fidelity: Our process begins with the quality control and standardized data management of uncompromising. This ensures that each analysis is built on highly complete genomic data, thereby minimizing human interference and maximizing the biological validity of your research results.
Improve the accuracy and resolution of phylogeny and classification: Core genes usually evolve slowly, are inherited vertically, and are less affected by horizontal gene transfer. Phylogenetic trees constructed based on single nucleotide polymorphisms (SNPS) or polygene sequences of core genes can more truly reflect the evolutionary history (vertical genetic relationship) of species, providing a more reliable basis for strain typing, traceability and population structure analysis.
Provide a standardized comparison framework: The core genome offers a unified and repeatable benchmark for comparing data from different studies and laboratories. By comparing the core genomes of different populations or ecological niches, the functional differences and evolutionary relationships can be stably evaluated.
Pathogen monitoring and traceability: Core genomic SNP typing (cgMLST/cgSNP) of outbreak strains of pathogenic bacteria (such as Salmonella, Mycobacterium tuberculosis, Vibrio cholerae) can achieve high-resolution traceability and precise tracking of the transmission chain.
Virulence and drug resistance assessment: On the basis of clarifying the background of the core genome, the acquisition and loss of accessory genomes (plasmids, virulence islands, and drug resistance gene boxes) can be analyzed more clearly, and the evolutionary dynamics of virulence and drug resistance can be understood.
Exploring speciation and adaptive evolution: By comparing the core genomes of strains from different environments or hosts, identify key genes subject to positive selection or purified selection, and reveal the genetic basis driving species differentiation and environmental adaptation.
Vaccine & Diagnostic Target Discovery: Bioinformatics screening was conducted on the core genomes of pathogens, especially difficult-to-culture bacteria, to predict surface-exposed and highly conserved proteins as potential broad-spectrum vaccine candidate antigens. For instance, this strategy has been applied in the development of vaccines against Group B streptococcus (GBS) and meningococcus.
Microbial species definition and taxonomy: Average Nucleotide Identity (ANI) of the core genome is a key genomic standard for microbial species delineation, with a widely adopted threshold of approximately 95–96% (depending on the taxonomic group and computational method). This analysis helps clarify phylogenetic relationships among closely related species or subspecies and resolves ambiguities in traditional classification systems.
Figure 2: Midpoint-root phylogenomic tree of 413 Pseudomonas genomes inferred from the concatenation of 393 core protein sequences using IQ-TREE. Bootstrap support values ≥95% are shown as dots on interior nodes. The tree was visualized using iTOL software. (Udaondo, 2024)
Comparative Pan-Genome Analysis of Piscirickettsia salmonis Reveals Genomic Divergences within Genogroups.
Journal: Front Cell Infect Microbiol.
Published:2017
Piscirickettsia salmon is the pathogen causing rickettsia disease in salmon, posing a significant threat to the global salmon aquaculture industry. Insufficient understanding of its pathogenic mechanism and unclear intraspecific classification have hindered effective disease prevention and control. Previous studies based on limited genomic data (such as 1-11 genomes), although suggesting the existence of two gene groups (LF-89 and EM-90), failed to provide clear genome-wide characterizations regarding their genetic differentiation, core essential functions, or group-specific virulence factors.
To analyze the population structure and pathogenic genetic basis of this species, we conducted a comprehensive core and pan-genome population genomics analysis. This study utilized all 19 publicly available complete sequenced genomes of salmon rickettsiae at that time. Our workflow includes: 1) High-quality genome alignment and annotation; 2) Construct a pan-genome to determine the core (shared) gene set and accessory (variable) gene set; 3) Phylogenetic and phylogenomic analysis based on the core genome to establish reliable evolutionary relationships; 4) Conduct comparative functional analysis on group-specific genes.
Figure 3: Classification of virulence factors in the core genome of P. salmonis. This classification is based on the data extracted from the description file of the virulence factor database.
Core genome SNP (cgSNP) or core genome multilocus sequence typing (cgMLST) provides a standardized, vertically inherited marker set that is highly reproducible and comparable across studies. In contrast, while whole-genome SNP (wgSNP) analysis can offer higher genetic resolution, it often depends on a specific reference genome, requires careful filtering of recombinant regions, and may face challenges in cross-study comparability. Furthermore, variations in gene content—such as the presence or absence of accessory genes—represent a distinct dimension of genomic diversity that is better analyzed through pangenome or gene content-based approaches rather than traditional SNP-based phylogenetics. Therefore, core genome analysis is particularly suited for inferring stable vertical inheritance patterns, clarifying deep evolutionary relationships, and analyzing large-scale population structures with high reliability.
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