Product specifications
A peak under SeqOne platform’s hood
Wetlab Kit compatibility
- Agilent
- IDT
- Twist Biosciences
- New England Biolabs
- Roche
- Illumina
Sequencing data types
- Gene Panel
- Whole Exome Sequencing (WES)
- Whole Genome Sequencing (WGS)
- RNA-Seq
Variants detected
- Single Nucleotide Polymorphisms (SNPs)
- Insertion & Deletion (INDEL)
- Mid-sized INDEL (~100b)
- Panel/exome/whole genome Copy Number Variant (CNVs)
- Structural Variants (SV)
- Alu elements
- Multi Nucleotide Variants (MNVs)
- Anti-variants
- Microsatellite instability (MSI)
- RNA SNPs and INDEL
- RNA Gene Fusions
Sequencer compatibility
- Illumina
- PGM / Ion Torrent
- Oxford Nanopore (coming soon)
Supported data formats
- fastq
- BCL
- BAM
- VCF
Databases
- Clinvar
- COSMIC (commercial version)
- dbSNP
- dfam
- dgv
- GnomAD (exome and genome data; absolute values and percentages)
- OMIM (commercial version)
- LOVD
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