Proteomics in Transition: From Discovery to Diagnostic Relevance Whitepaper

Proteomics in Transition: From Discovery to Diagnostic Relevance Whitepaper

For years, discovery proteomics uncovered hundreds of candidate biomarkers — but most stalled before reaching the clinic. New digital platforms change that: they deliver femtogram-level sensitivity, reproducible quantification across sites, and the analytical rigor required for regulatory and clinical use.

Why this matters
Proteins reflect real-time biology. That means faster detection, better trial enrollment, and clearer measures of therapeutic effect. Whether you’re developing a diagnostic, designing an adaptive trial, or building a multi-omics model, the right proteomic data reduces guesswork and accelerates decisions.

Quanterix Proteomics in Transition

Unlock with quick sign up!

    Dr. Ebru Boslem

    ANZ Market Manager - Research Genomics

    As the official distributor in Australia and New Zealand, Decode Science makes accessing genomics solutions straightforward. Our role is to connect your lab with advanced technologies, ensuring you get the right solution for your sequencing projects—delivered locally with support when you need it.

    BCR Sequencing of 1 Million Healthy and Diseased Samples in a Single Experiment

    BCR Sequencing of 1 Million Healthy and Diseased Samples in a Single Experiment

    Unlock with quick sign up!

      Key Takeaways

      1. Profiled 1 million human B cells in a single experiment

      2. Detected 900,000+ unique paired clonotypes across Type 1 Diabetes, Multiple Sclerosis, Rheumatoid Arthritis, Crohn’s, Celiac, and healthy donors

      3. Achieved sensitive detection of CDR3 regions, clonotypes, and full-length sequences at scale

      Evercode BCR uncovered over 900,000 unique paired clonotypes across 24 samples in a single experiment. Negatively selected B cells from 12 healthy donors were purchased, while pan B cells were isolated from 12 autoimmune-diseased human PBMCs and fixed using the Evercode Cell Fixation Kit v3 to preserve cell structure and protect RNA integrity. Fixed samples were stored at -80°C until all were ready for combined processing with the Evercode BCR Mega Kit. Whole transcriptome and BCR-specific libraries were sequenced on the Illumina Novaseq X, and data were analyzed using Parse Biosciences’ Analysis Pipeline v1.3.0. Clustering with Seurat 5.0 showed that the majority of cells corresponded to major B cell subtypes, as illustrated in the UMAP below (Figure 1).

      The assay demonstrated high sensitivity, detecting paired heavy and light chains in up to 89% of cells (Figure 2).

      Downloads

      Dr. Ebru Boslem

      ANZ Market Manager - Research Genomics

      As the official distributor in Australia and New Zealand, Decode Science makes accessing genomics solutions straightforward. Our role is to connect your lab with advanced technologies, ensuring you get the right solution for your sequencing projects—delivered locally with support when you need it.

      CNV Backbone Spike-in Panels

      Twist CNV Backbone Spike-in Panel with exome for cytogenetic research
      Stronger CNV Detection — Without Changing Your Exome Workflow.

      Large copy number variations can be easy to miss when exome sequencing focuses on exonic regions – leading to blind spots, repeat testing, and extra time interpreting unclear data. By spiking in Twist’s CNV Backbone Panels, you give your exome run the evenly spaced genomic coverage it needs to reliably surface clinically relevant CNVs — especially the ones standard exomes struggle with.

      Available in 100 kb, 50 kb, and 25 kb resolutions, the CNV Backbone Panels strengthen your detection sensitivity while keeping your workflow identical. Blend it into your existing exome panel, follow your standard Twist enrichment protocol, and immediately get more confident CNV calls backed by consistent probe tiling across intergenic regions.

      But... Why These Panels?

      1. Fine-Tune CNV Resolution

      Choose from 100 kb, 50 kb, or 25 kb probe spacing to match your CNV detection needs. Strategically tiled probes in intergenic regions enhance sensitivity for even small CNVs.

      2. Seamless Workflow Integration

      Easily spike into your Twist Exome 2.0 panel and follow standard enrichment protocols—no workflow disruption, no extra training required.

      3. Evidence-Based Performance

      Validated with highly characterized samples, the panels consistently improve CNV calls, including those smaller than 50 kb, boosting confidence in your results.

      4. Flexible Panel Sizes

      Available in 2-reaction (16 samples) and 12-reaction (96 samples) formats to fit both small-scale research and high-throughput lab workflows.

      Download Poster on utilization of these panels with exome for cytogenetic research

      Unlock with quick sign up!

        Why It Matters to You

        Reliable CNV detection isn’t just a technical metric—it directly impacts research outcomes, diagnostic accuracy, and patient care. Standard exome sequencing often misses CNVs due to uneven probe coverage, creating blind spots in your analysis. Twist CNV Backbone Spike-in Panels bridge those gaps, ensuring that even subtle copy number changes are identified, so you can make confident, data-driven decisions.

        For labs and clinicians, this means fewer follow-up tests, reduced time spent troubleshooting ambiguous results, and a smoother workflow. You can trust that your exome sequencing captures the variations that truly matter, whether for rare disease research, clinical diagnostics, or high-throughput screening.

        Moreover, the ability to choose between 25 kb, 50 kb, or 100 kb resolution gives you control over sensitivity and throughput, aligning with your project goals and patient population needs. Evidence-based validation demonstrates improved detection of CNVs—including those smaller than 50 kb—so your results aren’t just comprehensive, they’re actionable.

        By integrating these panels into your existing workflow, you enhance not only the quality of your data but also the efficiency of your lab operations, freeing time and resources for deeper analysis and patient-focused outcomes.

        Select the CNV Resolution You Need

        Select CNV Resolution You Need

        Table 1. Example data of Twist CNV Backbone Spike-in Panels. A highly characterized sample set known to contain CNVs (1) and a baseline set of 12 healthy individuals were sequenced with 2×150 reads on an Illumina NovaSeq 6000. The average number of SNVs, INDELs, and CNVs called and sequencing depth at each probe density was determined for each panel when spiked into Twist Exome 2.0 plus Comprehensive Spike-in. CNV calling was performed with a commercially available software solution (2)
         

        (1) Coriell Institute’s CNVPANEL01 – Human CNV Reference Panel.
        (2) eVai Platform (secondary workflow), enGenome Software. 

        Related Products

        Twist Exome 2.0

        Leading exome solution covering key genetic databases with high uniformity

        Twist Standard Hybridization Reagent Kit

        Reagents for high-efficiency NGS target enrichment (TE).

        Library Preparation Enzymatic Fragmentation Kit 2.0

        Enzymatic DNA fragmentation for efficient library prep.

        Ordering
        Higher Resolution: 

        110756  –  Twist 25kb CNV Backbone Spike-in Panel, 2 Reaction kit

        110757  –  Twist 25kb CNV Backbone Spike-in Panel, 12 Reaction kit

        Intermediate Resolution:

        110758 –  Twist 50kb CNV Backbone Spike-in Panel, 2 Reaction kit

        110759 –  Twist 50kb CNV Backbone Spike-in Panel, 12 Reaction kit

        Lower Resolution: 

        110760 –  Twist 100kb CNV Backbone Spike-in Panel, 2 Reaction kit

        110761 –  Twist 100kb CNV Backbone Spike-in Panel, 12 Reaction kit

        Exome Panels

        104132 –  Twist Exome 2.0, 2 Reactions, Kit

        104134 –  Twist Exome 2.0, 12 Reactions, Kit

        104136 –  Twist Exome 2.0, 96 Reactions, Kit

        105034 –  Twist Exome 2.0 plus Comprehensive Exome Spike-in, 2 Reactions

        105035 –  Twist Exome 2.0 plus Comprehensive Exome Spike-in, 12 Reactions

        105036 –  Twist Exome 2.0 plus Comprehensive Exome Spike-in, 96 Reactions

        *For research use only 

        Chris Wicky

        Clinical Genomics Manager - ANZ
        & Country Manager - NZ

        For guidance on integrating these panels into your operations, Decode Science can provide personalised support and local assistance.
        Twist Portfolio
        Twist NGS

        NGS

        Raise confidence in variant detection with superior target enrichment solutions

        Twist Oligo Pools

        Oligo Pools

        Precision, uniformity, and flexibility for results you can trust

        Synthetic Controls

        Synthetic RNA and DNA standards for assay development

        Twist Libraries

        Libraries

        Identify more hits and streamline screening with Twist's precise Variant Libraries

        Twist Genes

        Genes

        DNA Your Way: think bigger, expand your scope, and accelerate discovery in genes

        Twist Antibody

        Antibody

        Robust solutions for Antibody Discovery and Development by Twist Bioscience

        A CRE.AI.TIVE application of AI: Engineering a more resilient global food supply

        A CRE.AI.TIVE application of AI: Engineering a more resilient global food supply

        Unlock with quick sign up!

          Phytoform Labs harnessed its AI-powered CRE.AI.TIVE platform to develop climate-resilient crops, with a focus on drought-tolerant tomatoes. By rapidly exploring millions of potential sequence edits, the platform identified 2,000 high-potential candidates for wet-lab validation.

          To overcome the challenge of synthesizing complex, AT-rich sequences with homopolymers, the team partnered with Twist Bioscience. Twist’s high-fidelity oligos ensured accurate transfer of AI-designed sequences to the lab, enabling efficient MPRA screening in tomato protoplasts.

          This AI-guided workflow validated predictions while streamlining experiments—reducing waste, saving resources, and ensuring only the most promising variants progressed to in vivo testing.

          Case Study Highlights

          1. AI-driven design of millions of sequence variants

          2. Efficient identification of high-impact edits, conserving time and resources

          3. Ensuring fidelity of AI-generated oligos for complex plant sequences

          4. Insights on impact and future directions

          Chris Wicky

          Country Manager - NZ

          As the official distributor in Australia and New Zealand, Decode Science makes accessing genomics solutions straightforward. Our role is to connect your lab with advanced technologies, ensuring you get the right solution for your sequencing projects—delivered locally with support when you need it.

          Modified LongPlex™ Protocol (LongPlex XL)

          Modified LongPlex™ Protocol (LongPlex XL)

          Unlock with quick sign up!

            This technical note outlines an alternative workflow for generating 10–15 kb HiFi reads from high-quality genomic DNA using the LongPlex Long Fragment Multiplexing Kit. In this approach, LongPlex is used to fragment and barcode samples, and PacBio’s Short Read Eliminator (SRE) is applied to size-select fragments >10 kb before SMRTbell® library preparation.

            LongPlex uses plate-based transposase tagmentation for multiplexed fragmentation and barcoding, removing the need for mechanical shearing and allowing barcoded samples to be pooled before SMRTbell prep. This simplifies the workflow, increases throughput, and lowers library prep costs.

            The standard LongPlex protocol generates 6–9 kb HiFi reads from high- to medium-quality DNA—ideal for microbial and other small-genome projects. However, users working with higher-quality DNA may want longer HiFi reads to maximize gigabase yield on PacBio systems.

            This modified workflow is only suitable for high-quality DNA (Femto Pulse GQN30kb ≥7). Using degraded DNA will result in substantial sample loss during SRE size selection.

            LongPlex™ XL Long Fragment Multiplexing

            Chris Wicky

            Country Manager - NZ

            As the official distributor in Australia and New Zealand, Decode Science makes accessing genomics solutions straightforward. Our role is to connect your lab with advanced technologies, ensuring you get the right solution for your sequencing projects—delivered locally with support when you need it.

            Comparison of Evercode™ WT v3 and Chromium™ GEM-X Single Cell 3’ Kit v4 in Mouse Brain Nuclei

            Comparison of Evercode™ WT v3 and Chromium™ GEM-X Single Cell 3’ Kit v4 in Mouse Brain Nuclei

            Unlock with quick sign up!

              Comparison Highlights

              1. Evercode WT v3 delivers superior gene detection in head-to-head sensitivity tests.
              2. Cell type proportions remain consistently represented.
              3. Analysis of differential gene expression shows Evercode WT v3 identifies 2× more genes than competing methods.
              WT-vs-Gem-x-mouse-brain-tech-note-experimental-design-1536x546

              Study Overview
              Two embryonic mouse brains were sagittally dissected and flash-frozen by a third-party vendor.
              One half from each brain was processed by a 10x Genomics certified provider for nuclei isolation and library preparation, while the other halves were processed by Parse Biosciences using their own workflow.
              Sequencing was performed by a third-party, and data analysis was completed using each manufacturer’s respective pipeline.

              Dr. Ebru Boslem

              ANZ Market Manager - Research Genomics

              As the official distributor in Australia and New Zealand, Decode Science makes accessing genomics solutions straightforward. Our role is to connect your lab with advanced technologies, ensuring you get the right solution for your sequencing projects—delivered locally with support when you need it.

              Optimized CRISPR/Cas9 Gene Knockout PDF

              Accelerate knockout experiments with XDel’s next-generation CRISPR design.

              EditCo Bio’s XDel technology eliminates the need for guide RNA pre-screening, using a coordinated multi-gRNA design that delivers consistently high on-target editing across immortalized, primary, and iPSC lines. Validated through 768 edited samples and 4,816 NGS libraries, XDel achieves robust knockout efficiency while minimizing off-target effects—saving time and improving reproducibility across diverse cell types.

              Validated performance. Proven precision.
              With a standardized amplicon sequencing QC workflow and high-throughput automation, XDel enables scalable, high-confidence Cas9-mediated editing for both pooled and single-cell clone analysis. Download the full guide to explore the data, workflows, and results behind EditCo Bio’s high-efficiency gene knockout strategy.

              Optimized CRISPR/Cas9 Gene Knockout pdf EditCo Bio

              Unlock to Download Sheet

                Hamza Hassan

                Business Development Manager

                As the official distributor in Australia and New Zealand, Decode Science makes accessing genomics solutions straightforward. Our role is to connect your lab with advanced technologies, ensuring you get the right solution for your sequencing projects—delivered locally with support when you need it.

                Excel Sheet: STOmics Validated Tissue List

                STOmics Validated Tissue List

                Our STOmics validated tissue list provides researchers with a comprehensive reference of hundreds of tissue types successfully tested using Stereo-seq, the cutting-edge spatial transcriptomics technology. Each tissue entry includes detailed sample information, experimental parameters, and test results, allowing scientists to make informed decisions before starting their single-cell or spatial transcriptomics experiments. By consulting this list, you can ensure compatibility with your tissue samples and streamline your experimental design.

                The list not only highlights tissue types that have been validated but also provides insights into the experimental conditions that yielded the most reliable results. Researchers can leverage this information to optimize sample preparation, sequencing protocols, and data quality control measures. This reduces trial-and-error, saves valuable time and resources, and ensures reproducibility across studies. It is an essential tool for anyone planning to use Stereo-seq for spatial gene expression profiling.

                In addition, our STOmics validated tissue list supports better planning for large-scale studies and comparative analyses. By providing a centralized reference for tissue performance, it helps guide tissue selection, anticipate potential challenges, and maximize experimental success. Whether you are exploring new tissue types or scaling up existing workflows, this validated tissue list is your key resource for robust, high-quality spatial transcriptomics research.

                STOmics-Validated-Tissue-List

                Unlock to Download Sheet

                  Notices:

                  The STOmics validated tissue list was generated using standard tissue and sample types, all of which are frozen. Each tissue sample had an area of less than 1 cm² and was sectioned at a thickness of 10 μm. Most experiments were performed using the Stereo-seq Transcriptomics Kit V1.2, with a few using V1.1. Sequencing depth ranged from 1–3 G reads per sample, and data were processed using the Stereo-seq Analysis Workflow (SAW) versions V2.1.0–V5.1.3. Testing was conducted between 2020 and 2022.

                  Please note that all test parameters and results are highly dependent on the tissue and sample type. This information should be used as a reference guide to help design and optimize your own experiments, rather than as definitive outcomes for all samples.

                  Key parameters included in the list:

                  1. MID (K): Bin200_Median_MID in thousands

                  2. GENETYPE (K): Bin200_Median_Genetype in thousands

                  Dr. Ebru Boslem

                  ANZ Market Manager - Research Genomics

                  As the official distributor in Australia and New Zealand, Decode Science makes accessing genomics solutions straightforward. Our role is to connect your lab with advanced technologies, ensuring you get the right solution for your sequencing projects—delivered locally with support when you need it.

                  Data Set: Parse 10 Million Human PBMCs in a Single Experiment

                  Scale Single-Cell Research Like Never Before

                  Unlock with quick sign up!

                    Key Takeaways

                    1. Analyze 10 million cells across 1,152 samples in a single experiment

                    2. Increase statistical power by profiling more cells per sample

                    3. Capture detailed cellular responses to perturbations and drug treatments

                    10 Million Human PBMCs in a Single Experiment

                    Figure 1: Experimental Design Overview
                    Approximately 10 million PBMCs from 12 healthy donors were treated with 90 different cytokines in a single GigaLab experiment, covering 1,092 experimental conditions.

                    Cells were thawed, washed, and seeded at 1 million cells per well across 12 plates. After 24-hour cytokine treatment, cells were fixed, barcoded, and processed for whole transcriptome sequencing. Libraries were sequenced on the Ultima Genomics platform, achieving ~31,000 reads per cell, with 62.45% cell retention after barcoding.

                    Results?

                    After data processing with the Parse Analysis Pipeline v1.4.0, integration, and classification, 9,697,974 cells across 18 immune cell types were identified—including rare populations that are typically missed in smaller experiments. Each condition yielded a median of 7,400 cells, enabling high-resolution analysis of immune responses.

                    Differential expression analysis identified how cytokines influenced gene activity across cell types. Many cytokines triggered strong transcriptional responses, with over 50 genes upregulated per treatment.

                    Figure 2: Single-Cell UMAP Overview
                    9,697,974 PBMCs from 12 donors were integrated with Harmony, clustered using Scanpy, and manually annotated, revealing 18 immune cell types present across all donors and experimental conditions.

                    Figure 3: Cytokine-Induced Gene Changes
                    A heatmap summarizes the averaged number of genes significantly upregulated (log fold change >0.3, p <0.001) for each cell type and cytokine, highlighting which immune cells respond most strongly to specific cytokine treatments.

                    Example tutorial vignettes from Parse Biosciences and Fabian Theis’ lab at Helmoltz-Munich:

                    Parse 10M PBMC Cytokines Clustering Tutorial
                    Joey Pangallo, Efi Papalexi – Parse Biosciences, Seattle, WA
                    Step-by-step example of analyzing 10 million PBMCs treated with cytokines using the Evercode workflow. Covers data loading, preprocessing, Leiden clustering, and generating UMAP plots with Scanpy.


                    Parse 10M PBMC Cytokines Clustering Tutorial (Downsampled)
                    Joey Pangallo, Efi Papalexi – Parse Biosciences, Seattle, WA
                    Same workflow as above, starting with a downsampled dataset of 1 million cells. Ideal for quicker exploration or limited CPU memory setups.


                    scCODA Parse 10M PBMC Cytokines
                    Artur Szałata, Dominik Klein, Soeren Becker, Fabian Theis – Helmholtz-Munich
                    Demonstrates analysis of cell proportion changes across 10 million PBMCs. Shows how using the full dataset improves statistical significance of perturbation effects. Based on scCODA, a Bayesian model for compositional single-cell data analysis (Nat Commun 12, 6876, 2021).


                    Parse 10M PBMC Cytokines Dask Workflow
                    Artur Szałata, Dominik Klein, Soeren Becker, Fabian Theis – Helmholtz-Munich
                    Walks through preprocessing the 10M cell dataset using Dask. Loads data chunk-wise to reduce memory use and demonstrates highly variable gene selection for downstream analysis.


                    Dataset License: CC BY-NC 4.0 (non-commercial use). Commercial licensing inquiries: support@parsebiosciences.com

                    Dr. Ebru Boslem

                    ANZ Market Manager - Research Genomics

                    As the official distributor in Australia and New Zealand, Decode Science makes accessing genomics solutions straightforward. Our role is to connect your lab with advanced technologies, ensuring you get the right solution for your sequencing projects—delivered locally with support when you need it.

                    Twist Oncology – DNA CGP Panel

                    PRODUCTS

                    Comprehensive Genomic Profiling for Oncology Research

                    The new Twist Oncology - DNA CGP panel offers 562-gene coverage for complete tumour profiling

                    Comprehensive Genomic Profiling (CGP) uses next-generation sequencing (NGS) to evaluate multiple clinically relevant biomarkers within a solid tumor. It provides detailed genomic resolution, enabling the detection of single nucleotide variants (SNVs), insertions and deletions (indels), copy number variations (CNVs), select gene fusions, and key cancer genomic signatures such as tumor mutational burden (TMB) and microsatellite instability (MSI).

                    By consolidating this information into a single assay, CGP offers a complete view of a tumor’s molecular profile, reducing the need for multiple tumor-specific panels or separate testing methods.

                    Why CGP Matters

                    Unified Testing Platform

                    Combines samples from all tumor types into a single test platform, enabling efficient batching and streamlined workflow.

                    Actionable Insights

                    Focuses on clinically and research-relevant information, supporting treatment decisions and drug development strategies.

                    Cost-Effective Efficiency

                    More efficient and economical than whole-exome sequencing (WES) for oncology, lowering resource use while maintaining comprehensive genomic coverage.

                    Chris Wicky

                    Clinical Genomics Manager - ANZ & Country Manager - NZ

                    If you’d like to see how this fits your current setup, I can walk you through integration options or pilot testing. The new Twist Oncology – DNA CGP Panel provides 562-gene coverage for comprehensive tumor profiling.
                    Twist Tumor DNA CGP Panel

                    Enable improved Tx Selection and enhanced Clinical Research 

                    Fixed Panel + Customisation Options

                    • 562 genes analyzed for SNVs and hotspot mutations (+39 genes compared to TSO500)

                    • Microsatellite instability (MSI) detection across ~50 sites

                    • Copy number variation (CNV) analysis for 57 clinically relevant genes

                    • Selected fusions and tumor mutational burden (TMB) scoring for complete tumor profiling

                    • Add custom biomarkers to differentiate your lab’s testing capabilities

                    • Adaptable for specific clinical or research needs

                    End-to-End Twist NGS Workflow Compatibility:

                    • Library preparations: EF2.0, cfDNA

                    • Hybridization solutions with options for software analytics

                    • Streamlined workflow for enhanced lab efficiency

                    Now available in Australia and New Zealand through Decode Science.

                    Example Data Metrics

                    Example sequencing QC metrics averaged across data down sampled to 2000x raw coverage (32M 2×150 reads). 4.5 Gb of Data is enough for VAF detections ranging ~2%. Data available upon request.

                    Panel target size2.4 Mb
                    Example input 50 ng
                    Mean Target Coverage515x
                    On-Target Rate77%
                    Fold-80 Base Penalty1.32
                    Duplication Rate20%
                    Target bases covered >100x 99.5%
                    Advantages of Twist Oncology Panel
                    CONTENT

                    TSO-500 : Content is locked at 523 genes in 2025 and beyond

                    Twist CGP : Offers an updated CPG panel of 562 genes with Twist dsDNA probes

                    CUSTOMISATION

                    TSO-500 : Not Possible

                    Twist CGP : Can easily modify content to add genomic features or new biomarkers

                    COMPATIBILITY

                    TSO-500 : Product is locked into Illumina Platform Ecosystem

                    Twist CGP : Twist can enable Illumina short-read platforms and non-Illumina platforms (Ultima, Element, etc.)

                    WORKFLOW

                    TSO-500 : Requires an overnight capture + 2nd Hybridization Capture

                    Twist CGP : Single overnight hybridization capture (Option Trinity on Element)

                    COMPETITIVE PRICING

                    TSO-500 : High cost per sample for IVD kit pricing

                    Twist CGP : Can offer competitive pricing and modular kit options.

                    MODULAR PRODUCT

                    TSO-500 : Purchase is an all inclusive kit, no option for purchasing components

                    Twist CGP : Twist can sell modules, or custom configurations through OEM services

                    Customer Testimonial
                    "At LifeStrands Genomics Australia, we rely heavily on Twist’s NGS probes and reagents across nearly all our assays... Twist’s probe design flexibility and scalability have allowed us to tailor both DNA and RNA panels that suit a wide range of solid tumours without compromising sensitivity or turnaround times. We view Twist not just as a vendor, but as a strategic partner in advancing precision oncology."
                    Dr. Vivek Rathi, MD MSc FRCPA
                    Medical Director LifeStrands Genomics Australia (Genoox User)
                    Ready To Order?
                    As the official distributor for Twist Bioscience in Australia and New Zealand, Decode Science makes accessing CGP Panel straightforward. Our role is to connect your lab with Twist’s advanced technologies, ensuring you get the right custom panel solution for your sequencing projects—delivered locally with support when you need it.