Applications of long-read sequencing to Mendelian genetics

Table 1 Comparison of PacBio and ONT sequencing technologies

Sequencing technology	Platform	Supported flow cell	Data production	Read length (kbp)	Mean read accuracy (%)	Throughput per flow cell (Gbp)	Estimated Cost per Gbp (US$)^a	Applications
Pacific Biosciences (PacBio)	Sequel II/IIe^c	SMRT Cell 8M	HiFi	15-25 (up to 40)	>99	30-42	31-43	WGS, Gene panels, cDNA sequencing, Methylation analysis, Metagenomics and microbiome analyses
Pacific Biosciences (PacBio)	Revio^c	SMRT Cell 25M	HiFi	15-25 (up to 40)	>99	Up to 90-126^b	8-11^b
Oxford Nanopore Technologies (ONT)	Flongle	R9.4.1	Simplex, duplex	1-100 (up to > 2000)	>95	1-2	118^d	Amplicon or plasmid sequencing
	MinION	R9.4.1, R10.4.1			>95	15-25	29–51^e	Amplicon sequencing, Sequencing of small genomes, Adaptive sampling, gene panel, cDNA and direct RNA sequencing, Metagenomic and microbiome analysis
	GridION	R9.4.1, R10.4.1			>95	15-25^f	29–51^e
	PromethION	R9.4.1, R10.4.1			>95	100-200	6–12^g	WGS, cDNA and direct RNA sequencing, Adaptive sampling

^aPricing includes exclusively SMRTbell prep and sequencing reagents run on proprietary instruments.
^bProjected estimate: Revio was launched in Q1 2023.
^cThe Sequel IIe and Revio can process the raw sequencing data and generate HiFi reads on the instrument.
^dAssumes output of 1.5 Gbp per flow cell using single library.
^eAssumes output of 20 Gbp per flow cell using single library.
^fGridION allows simultaneous sequencing on 5 flow cells.
^gAssumes output of 150 Gbp per flow cell with three libraries.

ISSN: 1756-994X