From Genome Analysis Wiki
Jump to navigationJump to search
39 bytes added
, 12:14, 25 February 2013
Line 49: |
Line 49: |
| Our dataset consists of 60 individuals from GBR sequenced by the 1000 Genomes Project. These individuals have been sequenced to an average depth of about 4x. | | Our dataset consists of 60 individuals from GBR sequenced by the 1000 Genomes Project. These individuals have been sequenced to an average depth of about 4x. |
| | | |
− | To conserve time and disk-space, our analysis will focus on a small region on chromosome 20, 42900000 - 43200000. We will first map the reads for two individuals (HG00096, HG00100). We will then combine the results with mapped reads from the other 58 individuals to generate a list of polymorphic sites and estimate accurate genotypes at each of these sites. | + | To conserve time and disk-space, our analysis will focus on a small region on chromosome 20, 42900000 - 43200000. We will first map the reads for two individuals (HG00096, HG00100). |
| + | |
| + | The 2nd step is to use the mapped reads for 60 individuals to generate a list of polymorphic sites and estimate accurate genotypes at each of these sites. |
| | | |
| The example dataset we'll be using is available at: ftp://share.sph.umich.edu/gotcloud/gotcloudExample.tar | | The example dataset we'll be using is available at: ftp://share.sph.umich.edu/gotcloud/gotcloudExample.tar |
Line 116: |
Line 118: |
| | | |
| Upon successful completion of the variant calling pipeline, you will see the following message: | | Upon successful completion of the variant calling pipeline, you will see the following message: |
− | Commands finished in xxx secs with no errors reported | + | Commands finished in nnn secs with no errors reported |
| | | |
| The final VCF produced by the variant calling pipeline containing only the variants that passed all filters is: | | The final VCF produced by the variant calling pipeline containing only the variants that passed all filters is: |
Line 131: |
Line 133: |
| | | |
| Upon successful completion of this pipeline, you will see the following message: | | Upon successful completion of this pipeline, you will see the following message: |
− | Commands finished in xxx secs with no errors reported | + | Commands finished in nnn secs with no errors reported |
| | | |
| The output from the beagle step of the genotype refinement pipeline is found in: | | The output from the beagle step of the genotype refinement pipeline is found in: |
Line 144: |
Line 146: |
| | | |
| | | |
− | | + | = Tutorial Inputs / Modifying the Tutorial Inputs to Run Your Own Data = |
− | = Modifying the Tutorial Inputs to Run Your Own Data = | |
| | | |
| == Alignment Pipeline == | | == Alignment Pipeline == |
− | The inputs to the alignment pipeline are | + | The inputs to the tutorial alignment pipeline are: |
| + | # Configuration File (--conf) |
| + | # |
| | | |
| ===Index file=== | | ===Index file=== |