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, 18:08, 15 June 2014
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| + | == Comparison with other data sets == |
| + | |
| + | Note that about 47% of the i |
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| + | vt profile_indels -g /net/fantasia/home/atks/ref/vt/grch37/indel.reference.txt -r /net/fantasia/home/atks/ref/vt/grch37/hs37d5.fa run/final/all.genotypes.bcf -i 22:36000000-37000000 |
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| + | profile_indels v0.5 |
| + | |
| + | data set |
| + | No Indels : 720 [0.84] #720 indels, with and insertion deletion ratio of 0.84 |
| + | FS/NFS : 0.50 (2/2) #only 4 variants overlap with coding regions, half of which are frameshift variants |
| + | Low complexity : 0.47 (335/720) #47% of the variants are in low complexity regions <br> |
| + | 1000G |
| + | A-B 719 [0.83] |
| + | A&B 1 [inf] #only one variant overlaps with 1000 Genomes phase 1 data set. |
| + | B-A 517 [0.77] |
| + | Precision 0.1% |
| + | Sensitivity 0.2% <br> |
| + | mills |
| + | A-B 720 [0.84] |
| + | A&B 0 [-nan] #no variants overlaps with Mills et al. double hit variants. |
| + | B-A 102 [1.04] |
| + | Precision 0.0% |
| + | Sensitivity 0.0% <br> |
| + | dbsnp |
| + | A-B 720 [0.84] |
| + | A&B 0 [-nan] #no variants overlaps with Mills et al. double hit variants. |
| + | B-A 702 [1.52] |
| + | Precision 0.0% |
| + | Sensitivity 0.0% |
| + | |
| + | This discovery set appears to have many novel variants! (or false positives) |
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| ==Peek== | | ==Peek== |