Target enrichment solution for long-read sequencing that combines preconfigured panels and customizable options to study complex genomic regions with high uniformity, balanced coverage, and precise analysis of SNPs, indels, and structural variants.
Detailed Description
Operating Principle
The workflow integrates Twist’s targeted enrichment technology with long-read sequencing to efficiently capture genomic regions of interest at scale. Probes have been optimized to promote uniform capture and high sequencing efficiency, even in complex or hard-to-map regions.
The protocol is optimized for long-fragment enrichment and allows working with both predefined panels and fully customizable, scalable designs.
Clinical Applications
This solution is particularly relevant in clinically focused studies where short-read technologies face limitations, such as in genes with pseudogenes, repetitive regions, or segmental duplications.
Twist Bioscience offers two commercial panels with different applications:
The Twist Alliance Long-Read PGx panel is tailored for the characterization of pharmacogenomic genes, including highly complex genes like HLA and CYP2D6, as well as the complete mitochondrial genome for simultaneous detection of heteroplasmy.The Twist Alliance Dark Genes panel provides comprehensive coverage of 389 clinically relevant genes located in ‘dark’ regions of the genome—regions that are difficult or impossible to fully resolve using short-read sequencing. The genes included in this panel are involved in multiple clinical areas, including cardiology, neurology, immunodeficiencies, ophthalmology, and cancer.
Benefits
Enables better characterization of complex regions, maintaining a scalable strategy at a more accessible cost than whole genome sequencing.The combination of capture enrichment and long-read sequencing allows for highly accurate variant calling for SNPs, indels, and SVs, as well as unambiguous haplotype resolution and phasing.In pharmacogenomics, this is especially relevant for star allele assignment and the correct interpretation of complex loci; in the so-called ‘dark genes’, it improves coverage in regions that typically present gaps or coverage valleys with short-read WGS.Uniform coverage of target regions such as CYP2D6, HLA-B, GBA, LPA, SMN1, and PMS2, compared to the variable coverage and gaps seen in short-read WGS.Compatible with PacBio and Oxford Nanopore systems.
Intended Audience / User
Aimed at genetics, clinical genomics, pharmacogenomics, and translational research laboratories needing to study complex regions through targeted long-read panels, with the ability to analyze large cohorts and multiplex multiple samples in a single run.
Key Features
Targeted enrichment for long-read sequencing with preconfigured panels (LR PGx and LR Dark Genes) and fully customizable options.
Optimized probes to achieve high uniformity, sequencing efficiency, and balanced coverage in hard-to-sequence or hard-to-map regions.
Precise detection of SNPs, indels, and structural variants (SVs).
Haplotype resolution and long-range phasing without the need for trios.
Prominent application in pharmacogenomics, including the characterization of complex loci such as CYP2D6 and HLA genes.
Application in medically relevant genes from ‘dark’ regions, such as GBA, SMN1/2, and PMS2.
Design oriented towards scalable and cost-effective studies in large cohorts.
Ordering Information
Twist Alliance Long-Read PGx Panel
Panel size
2 Mb
Content
50 genes
Application
Focused on relevant pharmacogenomic genes, including CYP genes, HLA, and the complete mitochondrial genome.
Twist Alliance Dark Genes Panel
Panel size
22 Mb
Content
389 clinically relevant, hard-to-analyze genes, such as: GBA, SMN1/2, PMS2
Area:
Genomes, Hereditary and/or Rare Diseases, Molecular Genetics, Pharmacogenomics, Targeted study of specific pathologies
