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CEGS HiSeq Services
For help contact mnajarian@cs.unc.edu
1_0 Validation and Sanity Checks mcmillan / Version 17

Outstanding Problems:

  1. Is sample "GF_0169" a male or XO female? (lm 5/7/2012)
    • There is a "male-like" imbalance in the number of maternal reads vs. paternal reads.
    • There is a "female-like" reduction in reads to the Y chromosome.


  2. What is wrong with samples "GH_0081(M)" and "GH_0087(F)"? Are they a mix of lanes from two animals?  (lm 5/7/2012)
    • Mitochondria read ratios are inconsistent. Paternal counts are too high. In "GH_0081(M)" the paternal read counts are 37% greater than the maternal; such a skew is unlikely due to a reciprocal.
    • "GH_0081(M)" has too many paternal reads on X (should have none)
    • The number of reads mapping to Y in "GH_0087(F)" is atypical of (higher than) other GH samples.


  3. Why are the paternal mitochondrial read so high for sample "FG_0122(M)"? (lm 5/8/2012)

  4. What is wrong with inbred sample "FF_6136(F)"? (lm 5/9/2012)
    • Based on gene expression on chromosome X it appears more like an F1 (FG? or GF?)


  5. Many Sanger high-confidence SNPs are inconsistent with our inbred alignments (lm 5/9/2012)
    • Examining inbreds at the annotated Sanger SNP positions shows evidence of multiple alleles. More than I would expect by noise alone
    • The inconsistent SNP positions appear to be cross specific (will add more explaination later).



Resolved Problems:

  1. Why do the allelic ratios on X for the GH and HG samples stop at 100MB?  (lm 5/7/2012)
    Fixed with latest bam files (lm 5/8/2012: there must have been a problem with the bamfiles that extracted only X).



Resources:

  1. Spreadsheet identifying problem F1 samples (F1sanity.xls)


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