Short-read sequencing is the most commonly used form of Next-Generation Sequencing (NGS). It has a wide range of diagnostic applications, including whole genome sequencing, whole exome sequencing, RNAseq, gene panel testing, and single-gene testing. In short-read sequencing, the genome is fragmented into small fragments (typically 200-300bp) before being sequenced. Post-sequencing, alignment to reference genomes, variant calling, and variant annotation can be performed.
Illumina Sequencing By Synthesis Chemistry
(MiSeq, NextSeq, NovaSeq6000)
Illumina XLEAP Chemistry
(NovaSeq X)
Element Avidite Chemistry
(AVITI)