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Single Cell Whole Genome Sequencing Service

Single-cell whole genome sequencing is a cutting-edge technology that amplifies and sequences entire genomes at the single-cell level. The fundamental concept is to amplify a minute quantity of genomic DNA derived from lysed individual cells to obtain a high-coverage single-cell genome, followed by high-throughput sequencing through exon capture to unveil cell population disparities and cellular evolutionary relationships. This novel technology is increasingly vital in the realms of cancer research, embryonic development, assisted reproduction, cellular differentiation, immunological mechanisms, microbiology, and other investigative fields.

Sample Requirements

  • Species:
    Human and mouse
  • Sample types and requirements:
    1. Sample types: Isolated single cell or DNA samples.
    2. Requirements: DNA ≥ 10 pg.

Workflow of Single Cell Whole Genome Sequencing Service

Basic workflow of single cell whole genome sequencing.Fig.1 Basic workflow of single cell whole genome sequencing. (Creative Biolabs)

Bioinformatics Analysis

  1. Remove joint contamination sequence and low-quality data.
  2. Matching, output data statistics.
  3. SNP detection, annotation, and statistics.
  4. InDel detection, annotation, and statistics.
  5. CNV detection, annotation, and statistics.
  6. SV detection, annotation, and statistics.
  7. Customized information analysis: Customers can negotiate the content of customized information analysis, such as group structure analysis, principal component analysis, and phylogenetic tree construction.

Published Data

Paper Title Single-cell mutation analysis of clonal evolution in myeloid malignancies
Journal Nature
Published 2020
Abstract In this study, they used single-cell mutational profiling on 146 samples from 123 patients in their investigation. They discovered that acute myeloid leukemia (AML) is dominated by a small number of clones, many of which have co-occurring epigenetic regulator alterations. Signaling gene mutations, on the other hand, frequently occur more than once in different subclones, indicating that clonal diversity is rising. They discovered combinations of mutations that synergized to boost clonal proliferation and dominance by mapping clonal trajectories for each sample.
Result The discovery of frequent, recurring epigenetic regulator mutations in clonal haematopoiesis (CH) patients and the reduced prevalence of overt myeloid malignancies in CH patients suggest that clonal evolution from disease-initiating clones to leukemic clones is the rate-limiting phase in myeloid transformation. Bulk sequencing analyses have previously been used to predict significant characteristics of clonal evolution; nevertheless, the molecular sequence of events that drive myeloid transformation has not been dissected at a single-cell, clonal level. They employed scDNA-seq to characterize clonal evolution in myeloid malignancies and gain insights into the etiology of myeloid transformation that could not be obtained from bulk sequencing.

Copy-number evolution in clonal extinction patients.Fig.2 Copy-number evolution in clonal extinction patients. (Miles, 2020)

Creative Biolabs' Service

Creative Biolabs provides plate-based single cell whole genome sequencing for rare cell samples (e.g., CTCs, circulating tumor cells), as well as for structural variation detection needs where genome-wide coverage is desired.

Professional consultation guides before, during, and after the project, please contact us for your tailored solution.


  1. Miles, L.A.; et al. Single-cell mutation analysis of clonal evolution in myeloid malignancies. Nature. 2020, 587(7834): 477-482.
! ! For Research Use Only. Not for diagnostic or therapeutic purposes.