Genomic identity checking

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This site gives instructions for using the script to compare the identity of genomic samples, specifically:

  • Illumina SNP genotyping data
  • Whole exome sequencing data
  • Whole genome sequencing data

The script allows samples to be compared across genome builds (hg18, hg19) and/or across data formats (FinalReport, BAM). It allows you to answer the following questions:

What BAM files do I have? See the --find function under Usage

Are there any duplicate files? See the --index and --dup function under Usage

Does this BAM file match the expected SNP genotype file? See the --match function under Usage

To use please follow these links:

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