Ylaine/2009-7-20

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Reading[edit]

Hoberman et al. "A probabilistic approach for SNP discovery in high-throughput human resequencing data"

  • Developed SNP calling algorithm that improves accuracy of calling heterozygote SNPs
  • Data is 454 sequencing (longer reads than Solexa)
  • Random forest approach to classification based on variety of local and read-scale parameters
  • Re-aligns unmapped reads using multiple sequence alignment
  • Estimates PDF of fraction of reads resulting from a second allele that has been less preferentially amplified