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Cougar Hao Hu, MPIMG

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations. Cougar Hao Hu, MPIMG. Medical Re-sequencing Analysis Pipeline (MERAP). Performance Evaluation. SNVFinder.

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Cougar Hao Hu, MPIMG

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  1. Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations Cougar Hao Hu, MPIMG

  2. Medical Re-sequencing Analysis Pipeline (MERAP)

  3. Performance Evaluation

  4. SNVFinder • Error sources: library construction, sequencing, image reading, alignment, neighoring indels • Correlation between mappability and error rate • Biased positions of indel-induced SNV artifacts

  5. IndelFinder

  6. CNVFinder

  7. Variant spectrum identified

  8. Logit score for missense pathogenicity • Involve seven predictors • Control samples: missense with allele frequency > 10% in 1000Genome and ESP6500 • Case samples: disease causing missense from HGMD

  9. Example of MERAP results

  10. Variant detection compared with GATK

  11. Thanks!

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