NGSplatforms

NGS platforms, short for next-generation sequencing platforms, are instruments that perform high-throughput DNA sequencing by reading nucleotides in many parallel reactions. They have driven rapid reductions in sequencing cost and time, enabling genome, transcriptome, and epigenome analyses across research and biomedical contexts.

Illumina dominates short-read sequencing with sequencing-by-synthesis chemistry. Typical reads are up to 2x300 bp, offering high per-base accuracy and very large throughput. It is widely used for whole-genome and exome sequencing, RNA-seq, and targeted panels.

Pacific Biosciences uses single-molecule real-time sequencing to produce long reads. HiFi reads offer lengths of 10–25 kb with high accuracy (approximately 99.9%). This supports de novo assembly, structural variation analysis, and resolving repetitive regions.

Oxford Nanopore Technologies provides nanopore sequencing with ultra-long reads and real-time data streaming. Devices range from portable MinION to high-throughput PromethION. Read lengths can exceed dozens of kilobases, with improving accuracy through chemistry and consensus sequencing.

Other platforms include Ion Torrent semiconductor sequencing and BGI/MGI’s DNBSEQ systems, which offer different chemistries, read lengths, and cost profiles. These options provide alternatives for targeted panels and mid-scale throughput.

Data outputs typically include FASTQ reads, alignments (BAM/CRAM), and variants (VCF). Analyses use platform-agnostic pipelines for base calling, quality control, alignment, assembly, and variant discovery, often requiring substantial computational resources and data storage.

Choosing a platform depends on the required read length, accuracy, throughput, budget, and downstream goals, as well as facility infrastructure and data-management capabilities.