Dr. Gawad discusses the transformation of our understanding of cancer biology through single-cell genomics with a focus on tumor heterogeneity and specific phenotype correlation.

Toward Personalized High-Resolution Leukemia Treatments Strategies using Single-Cell Genomics

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<div class="float-end right-image-cms">![immunology-1.png](https://bioskryb-dev-assets.s3.amazonaws.com/uploads/immunology_1_d65c92a34f.png)</div>Our immune systems are designed for diversity. Through a combination of innate and adaptive immunity, based on humoral and cellular responses, its primary function is to defend us against threats—both external (e.g., infectious disease) and internal (e.g., cancer). The immense diversity in our repertoires of antibodies and B- and T-cell receptors (BCRs and TCRs) is achieved through an elegant set of homologous variable, diversity, and joining (VDJ) genomic regions that recombine to form functional genes. B-cells then undergo additional affinity maturation, whereby unique immunoglobulin VDJ rearrangements acquire somatic mutations, and those clones containing mutations conferring higher antibody specificity proliferate. Immunology does not only focus on antibody and cellular repertoires that recognize threats, but seeks to elucidate the mechanisms by which infectious and genetic disease agents evade immune-mediated detection and destruction.

Massively parallel sequencing and spatial analysis approaches, such as single-cell immune profiling and single-cell transcriptomics, have enabled incredible advances in immunology and immunotherapy. Nevertheless, large gaps exist due to the limitations of whole-genome amplification ([WGA](/products/)) methods, which are required for single cell genomic analysis.

BioSkryb’s versatile and scalable single-cell whole genome amplification technology ([PTA](/technology/)) and powerful bioinformatics platform ([BaseJumper™](/basejumper/)) enable high-resolution analysis of genomic blueprints and functional gene expression profiles of individual immune cells. In combination with oligonucleotides and antibodies this offers the ability to study of each immune cell at the genomic, transcriptomic, and proteomic level.

In addition, our technology allows for the [precision analysis of individual tumor cells](/applications/cancer-genomics/). This uncovers clues about neo-antigen production and potential responses to checkpoint inhibitors, thereby assisting in the design of effective and personalized immunotherapies and disease management strategies.

Primary Template-directed Amplification or PTA employs controlled reaction parameters to reproducibly recover greater than 95% of the genome of single-cells and severely limited input samples with best-in-class fidelity and uniformity. 

Discover the difference BioSkryb Genomics can make for you in WGA

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Improvements in whole genome amplification (WGA) would enable new types of basic and applied biomedical research, including studies of intratissue genetic diversity that require more accurate single-cell genotyping. Here, we present primary template-directed amplification (PTA), an isothermal WGA method that reproducibly captures >95% of the genomes of single cells in a more uniform and accurate manner than existing approaches, resulting in significantly improved variant calling sensitivity and precision. To illustrate the types of studies that are enabled by PTA, we developed direct measurement of environmental mutagenicity (DMEM), a tool for mapping genome-wide interactions of mutagens with single living human cells at base-pair resolution. In addition, we utilized PTA for genome-wide off-target indel and structural variant detection in cells that had undergone CRISPR-mediated genome editing, establishing the feasibility for performing single-cell evaluations of biopsies from edited tissues. The improved precision and accuracy of variant detection with PTA overcomes the current limitations of accurate WGA, which is the major obstacle to studying genetic diversity and evolution at cellular resolution.

The improved precision and accuracy of variant detection with PTA overcomes the current limitations of accurate WGA, which is the major obstacle to studying genetic diversity and evolution at cellular resolution.

Accurate Genomic Variant Detection in Single Cells with Primary Template-Directed Amplification

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## Why be satisfied with snapshots if a comprehensive analysis of individual immune cells is within reach?