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6 bytes removed
, 23:14, 17 June 2014
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| == Run GotCloud/GenomeSTRiP pipeline == | | == Run GotCloud/GenomeSTRiP pipeline == |
− | GotCloud/GenomeSTRiP pipeline consists of three separate steps.
| + | GotCloud/GenomeSTRiP pipeline consists of three separate steps. |
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− | * Preprocess step : Create metadata summarizing the GC profiles, depth distribution, insert size distribution for accurate discovery and genotyping of structural variants.
| + | * Preprocess step : Create metadata summarizing the GC profiles, depth distribution, insert size distribution for accurate discovery and genotyping of structural variants. |
− | * Discovery step : Perform variant discovery split by region, across all samples. Also, perform variant filtering based on expert knowledge.
| + | * Discovery step : Perform variant discovery split by region, across all samples. Also, perform variant filtering based on expert knowledge. |
− | * Genotyping step : Iterate discovered variants across the samples and calculate the genotype likelihood of for each possible genotype.
| + | * Genotyping step : Iterate discovered variants across the samples and calculate the genotype likelihood of for each possible genotype. |
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| In addition, if one wants to genotype structural variants from other structural variant caller, there is a step available. | | In addition, if one wants to genotype structural variants from other structural variant caller, there is a step available. |
− | * Third-party Genotyping and Filtering step : Perform genotyping on the variant sites specified by an input VCF, and also perform variant filtering.
| + | * Third-party Genotyping and Filtering step : Perform genotyping on the variant sites specified by an input VCF, and also perform variant filtering. |
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| == Run GotCloud SnpCall == | | == Run GotCloud SnpCall == |
| [[File:SnpcallDiagram.png|500px]] | | [[File:SnpcallDiagram.png|500px]] |