Types of reports generated in GenomeStudio Genotyping Module v2.0

The GenomeStudio Genotyping Module v2.0 Report Wizard enables the generation of several report types:

• Final Report

• DNA Report

• Locus Summary Report

• Locus x DNA Report

• Custom Reports

Brief descriptions of each report type and its contents are provided below.

Types of reports generated in GenomeStudio v2.0

Final Report

The Genotyping Module Final Report contains information on the allele calls of the samples. There is an option to select the field/statistic to include in the report.

Table 1. Description of Headers available in a Final Report.

The Genotyping Module produces a Final Report in a text (.txt) or comma-separated valued (.csv) file format.

Figure 1. Final Report Sample.

DNA Report

The DNA Report contains the summary statistics for each sample.

Table 2. Description of Headers in a DNA Report.

The Genotyping Module produces a DNA Report in a comma-separated valued (.csv) file format.

Figure 2. DNA Report Sample.

Locus Summary Report

The Locus Summary Report contains details for each locus.

Table 3. Description of Headers in a Locus Summary Report.

The Genotyping Module produces a Locus Summary Report in a comma-separated valued (.csv) file format.

Figure 3. Locus Summary Report Sample.

Locus x DNA Report

The Locus x DNA Report contains details for each locus for each sample.

Table 4. Description of Headers in a Locus x DNA Report.

The Genotyping Module produces a Locus x DNA Report in a comma-separated valued (.csv) file format.

Figure 4.Locus x DNA Report Sample.

Custom Reports

This report type requires installation of GenomeStudio v2.0 plug-ins, which are available for download from the GenomeStudio 2.0 Plug-ins page and enable creation of custom reports for downstream analysis software.

GenomeStudio 2.0 Plug-ins

PLINK Input Report Plug-in

Figure 5. Output files for input into the PLINK software (.bat, .map, .ped, .phenotype, .script).

CNV Region Report

The CNV Region Report requires running cnvPartition Plug-in prior to report generation and produces three report types.

Standard Report: Lists each copy number variation and loss of heterozygosity (LOH) region for each sample.

Figure 6. Example of Standard Report.

Allele-Specific Copy Number Report: Reports copy number-informed genotypes such as A- and ABB.

Figure 7. Example of Allele-Specific Copy Number Report.

PLINK CNV Input Report: Creates input files for PLINK CNV Analysis Software.

Figure 8. Example of PLINK CNV Input generated files.

Reference:

GenomeStudio Genotyping Module v2.0 User Guide describes the step-by-step guide on how to generate a report in Genome Studio.

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