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@@ -1,11 +1,20 @@ |
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### Variant Calling |
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This APP developed for germline and somatic short variant discovery (SNVs + Indels). |
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**Supported Callers** |
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>**Accepted Data** |
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* TN matched WES for somatic variant calling |
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* TN matched WGS for somatic variant calling |
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* Normal-only WES for germline variant calling |
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* Normal-only WGS for germline variant calling |
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The datatype is judged by whether the bed file is set (i.e. the `regions` in inputs). |
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>**Supported Callers** |
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* The fields corresponding to these callers include `haplotyper`, `tnseq`, `tnscope`, `varscan`. |
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* All callers are <u>**not activated by default**</u>, which means the default setting is `false`. |
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* You need to manually set the caller to `true` in the submitted sample.csv. |
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* The fields corresponding to these callers include `haplotyper`, `tnseq`, `tnscope`, `varscan`. |
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<u>***Germline***</u> |
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* Haplotyper |
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@@ -14,15 +23,12 @@ This APP developed for germline and somatic short variant discovery (SNVs + Inde |
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* TNseq (TNhaplotyper2) |
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* TNscope |
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* VarScan |
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* TNhaplotyper (This caller is only available in `v0.1.0` as it is too outdated) |
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**Accepted Data** |
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* TN matched WES for somatic variant calling |
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* TN matched WGS for somatic variant calling |
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* Normal-only WES for germline variant calling |
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* Normal-only WGS for germline variant calling |
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The datatype is judged by whether the bed file is set (i.e. the `regions` in inputs). |
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>**Annotation Tools** |
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* The fields corresponding to two tools include `annovar`, `vep`. |
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* All tools are <u>**not activated by default**</u>, which means the default setting is `false`. |
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* You need to manually set the caller to `true` in the submitted sample.csv. |
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### New Releases |
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* TNhaplotyper, named as TNseq in `v0.1.0`, has beed substituted by TNhaplotyper2. |
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@@ -57,8 +63,9 @@ The parameters that must need contains: sample_id,normal_fastq_1,normal_fastq_2, |
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**Please carefully check** |
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* the reference genome you want to use is hg38. |
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* the reference genome you want to use is hg38 or hg19. |
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* bed file. |
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* the caller you want to use. |
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* PoN VCFs for TNseq and TNscope is supported, but are need to be generated in advance. |
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* interval padding is default 0, and you can change it. |
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* interval padding is default 0, and you can change it. |
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* the annotation tool is ANNOVAR or VEP. |