Advancements in next-generation sequencing (NGS) continue to decrease sequencing costs, which has enabled ultra-high throughput studies in agrigenomics and population-level genomic experiments studying the genetic factors of disease, ancestry, and more. Despite sequencer advancements, library preparation remains a labor-intensive and expensive bottleneck. There are numerous library construction methods available, but they are all limited by time and throughput capabilities. 

The Twist FlexPrep UHT Library Preparation Kit is designed to address these limitations. FlexPrep's proprietary Normalization by Ligation technology eliminates up-front sample normalization. In addition, early sample barcoding enables downstream pooling of twelve separate samples into one reaction for a more streamlined and efficient workflow.

This datasheet from Twist Bioscience describes general performance expectations of various library preparation parameters when using FlexPrep, details the versatility of the kits, and provides guidance for achieving desirable performance.

For Research Use Only - Not for Use in Diagnostic Procedures

Advancements in next-generation sequencing (NGS) continue to decrease sequencing costs, which has enabled ultra-high throughput studies in agrigenomics and population-level genomic experiments studying the genetic factors of disease, ancestry, and more. Despite sequencer advancements, library preparation remains a labor-intensive and expensive bottleneck. There are numerous library construction methods available, but they are all limited by time and throughput capabilities. 

The Twist FlexPrep UHT Library Preparation Kit is designed to address these limitations. FlexPrep's proprietary Normalization by Ligation technology eliminates up-front sample normalization. In addition, early sample barcoding enables downstream pooling of twelve separate samples into one reaction for a more streamlined and efficient workflow.

This datasheet from Twist Bioscience describes general performance expectations of various library preparation parameters when using FlexPrep, details the versatility of the kits, and provides guidance for achieving desirable performance.

For Research Use Only - Not for Use in Diagnostic Procedures

Population genomics studies are uniquely suited to identify rare and polygenic patterns in the human genome, shining valuable light on both the genetic drivers of disease and complex evolutionary histories. Such studies have traditionally relied on data collected using either microarrays or low-pass whole genome sequencing (lpWGS). Though valuable, the genetic content of these assays may not be easily customized and can result in poor coverage over key variants (thereby affecting assay sensitivity). As a result, the breadth of insights gained from population genomics studies is severely limited by these tools.

This application note from Twist Bioscience describes the use of Twist’s comprehensive suite of population genomics tools that enable assay flexibility, performance, and economy at scale.

For Research Use Only - Not for Use in Diagnostic Procedures

Infections from novel viral species and strains present a serious and recurring threat to global public health. Responding to these threats critically depends on the ability to identify and develop tests for the viral agent, which is a significant challenge given the diverse and rapidly evolving sequence space of human viruses. The problem is further compounded by novel infections acquired from animal viruses, which may have little sequence similarity to any known human-infective species. In theory, next-generation sequencing (NGS) approaches can detect completely novel viral agents. However, their application is limited by contamination from host reads, requiring significant sequencing depth to obtain full coverage over the viral template.

This application note from Twist Bioscience describes use of the Twist Comprehensive Viral Research Panel, a hybridization-based target enrichment solution capable of detecting highly divergent viral strains, with results highlighting the panel as a versatile solution for novel virus discovery and surveillance.

Accurately detecting and identifying viral pathogens is a critical global health concern exacerbated by the 2019 novel coronavirus (SARS-CoV-2) pandemic. A wide range of viral pathogens cause similar patient symptoms, making it difficult to identify the underlying infectious agent. Currently, RT-PCR assays are routinely used to detect viral pathogens. These common assays are rapid, but they are often used to test for just one pathogen at a time. Multiplexed RT-PCR saves time, allowing for the simultaneous detection and identification of multiple viruses, but it suffers from other shortcomings, including lack of viral sequence information. Next-generation sequencing (NGS) hybrid capture combines high-throughput capabilities with high sensitivity, making it possible to quickly identify specific, whole viral genomes from complex samples.

This application note from Twist Bioscience reports on the validation of the Twist Respiratory Virus Research Panel, an NGS hybrid capture panel that is capable of detecting 29 viral pathogens associated with common symptoms of respiratory illnesses.

Although some forms of precision medicine have existed for decades, next-generation sequencing (NGS) of tumors has yielded a plethora of mutations that inform clinical care. It is not uncommon for commercial NGS-based cancer gene panels to target more than 500 genes with several of those serving as biomarkers for therapeutic decisions. Beyond some of the common driver mutations, the acquisition of reference materials that contain even some of the mutations desired for assay optimization, validation, and monitoring is difficult.

This scientific poster from LGC SeraCare presents a new approach to FFPE reference materials, designed to ensure more accurate and reproducible results in NGS-based assays.

Fluoropyrimidine-based drugs (FP), such as 5-fluorouracil and capecitabine, are widely prescribed chemotherapy treatments for various cancers, with approximately two million patients treated globally each year. However, severe FP toxicity occurs in 10 to 30 percent of patients, often due to a deficiency in the dihydropyrimidine dehydrogenase (DPD) enzyme, which is encoded by the DPYD gene. DPYD genotyping identifies variants that cause DPD deficiency, helping to identify patients at risk of severe or fatal toxicity and allowing for preemptive treatment modifications. ​With the rising global cancer incidence, the availability of multiplexed pharmacogenomics reference material specific to DPYD will be crucial to enable labs to validate and QC their assays more effectively and accurately. ​

This scientific poster explores how Seraseq DPYD DNA Mutation Mix can enhance the accuracy and consistency of genetic testing associated with fluoropyrimidine-induced toxicity for better patient outcomes.

Liquid biopsy testing supports early disease diagnosis, therapy selection, and surveillance. Recent advances in next-generation sequencing (NGS) have enabled larger panel sizes, pan-cancer target sets, and increased sensitivities. FDA guidelines for liquid biopsy assay validation state that regions of the genome containing actionable variants must be tested with high confidence. As circulating tumor DNA (ctDNA) panels become larger and more capable, inclusive and highly multiplexed analytical validation materials are needed to assess assay sensitivity and limit of detection of many variant types.

This poster from LGC SeraCare, presented at AMP 2024, highlights advancements in Seraseq ctDNA Mutation Mix v4 that help improve analytical validation, ensuring more accurate results.

Rapid testing for syphilis and the practice of same-visit ‘test and presumptively treat’ for patients in the United States have received recent federal- and state-level support.

Rapid treponemal tests are suitable for both initial screening and confirmatory testing in traditional and reverse syphilis algorithms. Clinics and labs may choose rapid treponemal screening first — i.e., the reverse algorithm — because primary infection can be detected at an earlier stage than with nontreponemal tests (RPR) and with fewer false positives.

In this white paper from OraSure Technologies, Jeffrey Klausner, professor of medicine and public health at the Keck School of Medicine at the University of Southern California, describes how rapid treponemal testing offers highly accurate results in just 10 minutes, and how people who test positive can get antibiotic treatment immediately.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes. It includes a genome-wide backbone so that ExomeXtra automatically includes an array CGH analysis, providing a comprehensive database for informed genetic diagnosis.

This brief webinar excerpt from CeGaT describes the importance of bioinformatic analysis in deciphering trio exome data and presents two patient cases in which careful bioinformatic analysis revealed findings that otherwise would have been missed.

Mass spectrometry is an increasingly viable alternative to immunoassays, but broad uptake is hampered by laborious and time-consuming sample preparation regimes. Quantification of proteins usually requires proteolytic digestion for production of smaller peptides which are amenable to targeted mass spectrometry analysis. This proteolytic digestion step is time consuming and often takes up to 24 hours. Identification and quantification of biomarkers are routine in the field of proteomics and are of increasing significance in clinical settings.

This application note from Tecan describes the use of Resolvex Prep’s customizable μSPEed-Cxyl microreactor cartridges for rapid protein digestion at ambient temperature of bovine serum albumin, the most common reference standard used in proteomic system compliance checks, and cytochrome C, frequently used as a model protein for molecular evolution experiments.

Despite its immense potential, mass spectrometry-based plasma proteomics faces several significant challenges, including the complexity and dynamic range of the plasma proteome. The wide dynamic range — up to 12 orders of magnitude — limits access to the full proteome, as low-abundance proteins are masked by more abundant species. Sophisticated sample preparation techniques are therefore required to enrich low-abundance proteins and ensure in-depth and accurate proteome profiling. However, manual processing of large sample cohorts requires considerable hands-on time, which can slow studies and create the risk of human error.

This application note from Tecan describes the evaluation of an automated workflow offering a standardized and simplified solution for high-throughput and in-depth plasma proteome profiling and reports on the workflow’s performance in a study examining age-related plasma proteome differences between two age groups.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes. It includes a genome-wide backbone so that ExomeXtra automatically includes an array CGH analysis, providing a comprehensive database for informed genetic diagnosis.

This brief webinar excerpt from CeGaT describes uniparental disomies and how CeGaT adjusted its bioinformatics pipeline to detect maternal and paternal isodisomies and heterodisomies, and it provides case studies in which uniparental disomies were identified with the ExomeXtra genetic test.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes. It includes a genome-wide backbone so that ExomeXtra automatically includes an array CGH analysis, providing a comprehensive database for informed genetic diagnosis.

This brief webinar excerpt from CeGaT describes trio sequencing and presents cases solved with trio sequencing using ExomeXtra.

ExomeXtra is a genetic test covering all protein-coding regions, over 38,000 clinically relevant non-coding regions, the entire mitochondrial genome, and clinically relevant RNA genes.

This brief webinar excerpt from CeGaT reviews case studies illustrating the utility of the additional content included in the ExomeXtra genetic test.