Technical Note: Archer Analysis Variant and CNV detection methods

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Key Points

  1. Schematic representation of the germline and somatic calling algorithm
  2. Molecular barcodes allow for more precise counting of fragments
  3. Schematic representation of the CNV algorithm
  4. CNV visualizations in Archer Analysis

Abstract

Anchored Multiplex PCR (AMP™) is a target enrichment technology for next-generation sequencing (NGS)-based mutation detection. AMP differs from hybrid capture or amplicon-based oposing primer techniques in that universal adapters are ligated to DNA fragments prior to gene-specific amplification. The resulting target-specific library contains fragments with random start sites, sample-specific indexes and molecular barcodes that enable multiple sequencing, read de-duplication and error correction.

The addition of molecular barcodes and random start sites boosts the quality and quantity of data from sequencing runs. Archer Analysis is able to take advantage of the additional information for detection of SNVs, indels, and CNVs. The software uses the random start sites and molecular barcodes to produce QC metrics on library complexity and to correct sequencing errors and PCR artifacts, and to enable sensitive detection of copy number variants.

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Schematic representation of the germline and somatic calling algorithm

Schematic representation of the germline and somatic calling algorithm

Molecular barcodes allow for more precise counting of fragments

Molecular barcodes allow for more precise counting of fragments

Schematic representation of the CNV algorithm

Schematic representation of the CNV algorithm

CNV visualizations in Archer Analysis

CNV visualizations in Archer Analysis

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Phone: (303) 357 9001

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For Research Use Only. Not for use in diagnostic procedures. For Research Use Only. Not for use in diagnostic procedures.