Whole Genome Resequencing

What Is Whole Genome Resequencing?

Whole-genome resequencing is the genome sequencing of different individuals of species with known genome sequences, and based on this, individual or population differential analysis is performed. A large number of single nucleotide polymorphism (SNP) sites, insertion/deletion (InDel), structure variation (SV) sites and copy number variation (CNV) sites can be found by sequence alignment for whole genome resequenced individuals. Low-pass human whole-genome sequencing can also be performed to evaluate all types of genomic variants that replicate or delete larger lengths or entire chromosomes. Microbial whole genome sequencing can be used to identify and discover novel organisms or to identify specific bacterial organisms.

Deep genome-wide coverage of complex organisms requires technologies capable of high-throughput, cost-effective sequencing. Applications such as aneuploidy detection require lower depth of whole genome coverage and thus can take advantage of clear, accurate data generated by economically priced single-day workflows.

The process of whole genome resequencing. Figure 1. The process of whole genome resequencing.

In terms of years' professional experience in this field, Creative Biogene can provide you with the most affordable and highest quality whole genome resequencing services, and can assist clients to analyze the structural differences between genomes of different individuals through bioinformatic means and to complete the annotation.

Our Whole Genome Resequencing Methods

In order to whole genome resequencing, we can use the Paired-End or Mate-Pair.

  • Detection content
    • SNP
    • Indels
    • CNV
    • CV, including insertion, deletion, duplication, inversion and translocation.
  • Data volume output
    • Total number of bases
    • Totally mapped reads
    • Uniquely mapped reads statistics
    • Sequencing depth analysis
  • Consistent sequence assembly
    • Comparison analysis with reference genome sequence
    • Detection of the maximum possible genotype of each base site using Bayesian statistical model
    • Assembly of the concordant sequence of the individual genome
  • SNP detection and distribution in the genome
    • Extract all polymorphic loci in the whole genome
    • Filtering and screening combined with quality value, sequencing depth, repeatability and other factors
    • Obtain the SNP data set with high confidence
    • Annotate the detected variants according to the reference genome sequence
  • InDel detection and distribution in the genome
  • Structure Variation detection and distribution in the genome
    • Based on the results of sequence alignment analysis between sequenced individual sequences and reference genomic sequences
    • Detect structural variation at the genome-wide level and annotate the detected variants.


  1. SHU Q, WU STAN, and YGAO Q.(2019) Method for identifying transgene or gene editing material and insertion site using full genome resequencing data, involves determining wild-type genome sequence of plant to be tested by utilizing single-ended reading sequence. G16B-030/20C12Q-001/6869
  2. XU J, HU H, MAO W, and MAO C. (2018) Determining insertion site of transgenic line by extracting genomic DNA of transgenic lines, performing genome resequencing and alignment analysis, designing primers based on insertion site and determining insertion site of transgenic line. C12Q-001/6869
* It should be noted that our service is only used for research, not for clinical use.
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