Data description




Working plan

We have several candidate profiles of mutations because it is clear the kind of mutation we are searching but sometimes we do not have a specific clues.

How many variants do you detect for each scenario?

A. Individual filters

  1. Recessive heritage
  2. Dominant heritage (mother is affected).
  3. For these region, only chromosome: 3,19
  4. Evaluate the same regions, including start and end at the first region: 3:1000-200000,19
  5. For this gene: SDC3
  6. Description of variants. How many SNVs, INDELs, MNVs, SVs, CNVs?
  7. Variants with MAF (Minimum Allelic Frequency) < 0.05 for AFR populations in 1000 Genomes phase 1
  8. Variants with MAF (Minimum Allelic Frequency) < 0.05 for AFR populations in 1000 Genomes phase 3
  9. Variants with MAF (Minimum Allelic Frequency) < 0.05 for African American population in ESP 6500
  10. For sift<0.05 and polyphen >0.95, because it is likely pathogenic


B. Progressive selection

  1. Can you apply filters to search “Insuline Resistance” phenotype in recesive heritage?