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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