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The mitochondrial genome encodes factors critical to energy production, which directly affects the energy state of the cell, tissue, and human individual. Pathogenic mutations of Mitochondrial DNA (mtDNA) are often implicated in a group of complex human diseases which can be difficult to diagnose such as metabolic & neurologic disorders as well as cancer. Interrogation of the human mitochondrial genome by targeted Next Generation Sequencing (NGS) can help investigators shed light on the genetic mechanism behind mitochondrial disorders.
The Twist Mitochondrial Panel is a fixed content panel designed to cover all 16,659 base pairs (bp) and 37 genes of the mitochondrial genome. This panel can be used as a standalone panel or as a spike-in with Twist’s Human Core Exome, Comprehensive Exome as well as Twist’s Custom Panels. Providing industry-leading coverage, uniformity, and flexibility, the Twist Mitochondrial Panel can help investigators enrich for, sequence, and analyze mtDNA variants contributing to disease including incidences of heteroplasmy.
Historical genotyping tools have long grappled with biases toward a limited number of ethnicities, resulting in underrepresentation of significant portions of the global population. Traditional platforms, like microarrays, exacerbate this issue by offering fixed content updated only periodically. To address these inefficiencies and promote equity, researchers can turn to target capture-based Next-Generation Sequencing (NGS) workflows with probe panels designed for diversity and flexibility.
Twist’s expanding Targeted Genomic Block Sequencing (GBS) portfolio includes the Twist Diversity SNP Panel, offering a flexible, ethnicity-neutral gold standard for genotyping. This panel can be used independently or as a spike-in with the Twist Human Comprehensive Exome panel. Its customizable design allows for additional probes to cover specific regions of interest, all synthesized on Twist’s DNA synthesis platform.
Developed in collaboration with the Regeneron Genetics Center, the Twist Diversity SNP Panel seamlessly integrates into existing fully automated exome processing workflows, providing base calls and imputed variants. Genotype imputations can be calculated using open-source tools, with an imputation guide available from Twist Customer Support for those starting with imputation analysis tools.
Note: While the Diversity SNP panel content has not been fully validated through the complete Twist workflow, users are encouraged to contact Twist Customer Support for recommendations on assay set-up.
Methylation sequencing plays a crucial role in detecting and tracing the origins of cancer cells, offering sensitivity in unraveling complex methylation patterns. The Twist Alliance Pan-cancer Methylation Panel – 1.5 MB, a collaborative effort between Twist and AnchorDx, is tailored to focus on cancer-specific methylation patterns across 31 different cancers. This custom target enrichment panel provides deep coverage of clinically relevant targets, enabling the study of methylation patterns crucial for early cancer detection and diagnosis, especially from tumor and liquid biopsy samples.
Constructed with Twist’s state-of-the-art oligonucleotide synthesis platform, the panel boasts high on-target rates and uniformity. It has undergone validation with the Twist Methylation workflow, utilizing liquid biopsy samples from breast cancer, colorectal cancer, and non-small cell lung cancer. The panel design, based on the TCGA database, covers 31 cancer types and 47 disease entities, featuring 13,090 probes targeting approximately 126k CpG sites. Notably, around 74% of the 12k differentially methylated regions (DMRs) overlap with CpG islands, showcasing the panel’s comprehensive coverage.
It’s essential to note that the Twist Alliance Pan-cancer Methylation Panel – 1.5 MB does not carry ISO-13485 certification.
The Twist Alliance CNTG Exome – 41 MB, developed through collaboration between CENTOGENE and Twist, serves as a powerful tool for addressing the challenges associated with the diagnosis of rare diseases. Rare diseases often pose difficulties for physicians, leading patients on prolonged diagnostic journeys. DNA sequencing panels, such as this collaboration, offer comprehensive solutions, providing answers and resolutions for patients undergoing these diagnostic odysseys.
As a leader in rare disease diagnostics, CENTOGENE leverages its expertise in conjunction with Twist’s advanced omics technology to design target enrichment capture panels. The Twist Alliance CNTG Exome – 41 MB ensures highly uniform coverage of the entire exome, including full coverage of the mitochondrial genome. This panel significantly enhances diagnostic yield compared to standard whole exome sequencing, addressing a broad spectrum of disorders encompassing over 7,000 rare diseases.
The panel comprises a total of 483,000 probes, with components such as the Twist Human Comprehensive Exome (396.1K probes), Twist Mitochondrial Panel (139 probes), Twist Alliance Centogene Rare Disease Panel (78.8K probes), and Centogene Spike-In (7.8K probes). Notably, the Twist Alliance CNTG Exome – 41 MB does not carry ISO-13485 certification, emphasizing its designation for research use only and not for diagnostic procedures.
The Twist Alliance CNTG Rare Disease Panel, designated for research use only and not for diagnostic procedures, focuses on providing a more streamlined solution for researchers targeting rare diseases. With over 2,500 relevant genes associated with rare diseases, this panel ensures comprehensive coverage, encompassing ≥99.5% of targeted regions within the CNTG Exome footprint.
Containing 78.8K probes, the Twist Alliance CNTG Rare Disease Panel is designed to detect genes linked to various conditions, including rare treatable diseases, early onset childhood disorders, cardiac disorders, neurodegenerative diseases, skeletal abnormalities, and metabolic disorders. This lightweight tool offers researchers the flexibility to capture crucial rare disease coverage without the full exome footprint.
It’s important to note that the Twist Alliance CNTG Rare Disease Panel-7.6MB does not carry ISO-13485 certification, emphasizing its specific designation for research purposes.
The Twist Alliance CNTG Hereditary Oncology Panel, expressly designed for research use only and not intended for diagnostic procedures, focuses on providing a targeted solution for identifying genetic predisposition to hereditary tumors. This panel includes 72 carefully selected cancer-associated genes and covers ≥99.5% of targeted regions.
With applications ranging from identifying genetic predispositions in breast cancer to gastrointestinal tumors, Li-Fraumeni syndrome, MEN1, MEN2, paragangliomas, and more, the Twist Alliance CNTG Hereditary Oncology Panel offers a specialized tool for researchers delving into the genetic underpinnings of hereditary cancers.
It’s essential to note that the Twist Alliance CNTG Hereditary Oncology Panel- 0.2MB does not carry ISO-13485 certification and is exclusively designated for research purposes.
The Ancient Human DNA Panel, a collaborative effort with David Reich’s lab at Harvard University, is designed for studying genetic variation in ancient DNA specimens, typically obtained from bones and teeth. Targeting 1.35 million SNPs, this panel includes a subset covering all 1.23 million polymorphic sites in the human genome published in Fu et al. Nature 2015. This ensures compatibility with published data on numerous ancient individuals, fostering broad comparability.
Developed using Twist’s double-stranded capture probes and hybridization capture reagents, the panel demonstrates high genome coverage and reduced allelic bias. This optimization, as highlighted in Rohland, Mallick et al. Genome Research 2022, enables genome-scale data at significantly reduced sequencing costs compared to shotgun sequencing, thanks to the highly efficient enrichment of human DNA fragments.
It’s important to note that the Twist Alliance Ancient Human DNA Panel is not ISO-13485 certified, emphasizing its exclusive use for research purposes.
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