Whole-genome sequencing in disease samples with haplotype resolved and annotated genetic variation

Finding clinically relevant single-nucleotide variants (SNVs), copy number variants (CNVs), structural rearrangements and repeat expansions in a disease-agnostic manner, using whole-genome sequencing of native DNA.

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  • How nanopore sequencing enables the interrogation of genomes to an unprecedented level — haplotyped SNVs, structural variants, CNVs, repeat expansions, and methylation information can be used together to answer key clinical research questions
  • How long nanopore reads enable the resolution of complex structural variants and what this means for research into human diseases, such as repeat expansion disorders

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