NGS advantages vs. traditional platforms for variant screening studies

NGS-based variant screening enables broader and more precise genomic analysis than traditional genotyping platforms. With FlexPrep™, researchers can detect known and novel variants at base-pair resolution while scaling efficiently across large population studies. Unlike fixed-content arrays, NGS workflows offer the flexibility to customize targets, expand panels as research evolves, and generate richer datasets for downstream analysis. High multiplexing capabilities also help reduce per-sample costs, making large-scale variant screening studies more efficient and cost-effective.

NEXT GENERATION SEQUENCING WITH FLEXPREP

MICROARRAYS

Data completeness

Comprehensive,base-pair resolution across genome or selected regions

Limited to pre-selected variants; not well-suited for novel variant detection.

Customization of content

Easily customizable panels with fast TAT—target any genes, regions, or species

Content is fixed or semi-custom; change require redesign and new manufacturing

Cost and throughput

Lower cost per sample at scale due to multiplexing (up to 1,152 samples)

Cost scales poorly for large programs or across multiple species

Twist workflow for population genomics

The Twist population genomics workflow streamlines high-throughput sequencing from sample preparation through data generation, enabling efficient, scalable analysis across diverse populations and species. Using FlexPrep™ library preparation and customizable target enrichment solutions, researchers can process large sample volumes with simplified workflows, high multiplexing capacity, and consistent performance across diverse sample types. The workflow is designed to support applications such as population-scale genotyping, genetic diversity analysis, variant discovery, and population structure studies while reducing hands-on time and sequencing costs.

1

Extraction

Twist DNA Purification Kit as part of FlexPrep UHT

2

Library Prep

FlexPrep UHT Library Prep Kit

3

Target Enrichment

Twist Genotyping Panel - Human 600k

4

Sequencing

Element Biosciences, Ultima Genomics, or Illumina sequencing

5

Analysis

Gencove

Target Enrichment

Twist Genotyping Panel - Human 600k

Twist Genotyping Panel - Human 600k achieves high concordance with array data. Genomewide non-reference concordance (NRC) obtained after imputing all data (sequencing or array) to the Gencove v6.1 imputation reference panel.

Sequencing

Element Biosciences

By leveraging the Trinity Freestyle™ Hybridization Kit, FlexPrep maximizes the throughput capabilities of Element sequencers. This workflow compounds the time savings of FlexPrep’s easy workflow with the hands-off time afforded by on-sequencer Trinity enrichment chemistry.

Analysis

Gencove

For streamlining human population genomics studies, Twist has partnered with Gencove. Combining the FlexPrep™ UHT Library Preparation Kit with Gencove's imputation pipeline enables high-confidence variant calling from reduced sequencing coverage, maximizing efficiency and throughput and allowing you to generate valuable insights from genotyping data with exceptional accuracy and reduced sequencing costs.