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YaqingLiu 4 年前
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### Variant Calling
This APP developed for germline and somatic short variant discovery (SNVs + Indels).

**Supported Callers**
>**Accepted Data**
* TN matched WES for somatic variant calling
* TN matched WGS for somatic variant calling
* Normal-only WES for germline variant calling
* Normal-only WGS for germline variant calling

The datatype is judged by whether the bed file is set (i.e. the `regions` in inputs).


>**Supported Callers**

* The fields corresponding to these callers include `haplotyper`, `tnseq`, `tnscope`, `varscan`.
* All callers are <u>**not activated by default**</u>, which means the default setting is `false`.
* You need to manually set the caller to `true` in the submitted sample.csv.
* The fields corresponding to these callers include `haplotyper`, `tnseq`, `tnscope`, `varscan`.

<u>***Germline***</u>
* Haplotyper
@@ -14,15 +23,12 @@ This APP developed for germline and somatic short variant discovery (SNVs + Inde
* TNseq (TNhaplotyper2)
* TNscope
* VarScan
* TNhaplotyper (This caller is only available in `v0.1.0` as it is too outdated)

**Accepted Data**
* TN matched WES for somatic variant calling
* TN matched WGS for somatic variant calling
* Normal-only WES for germline variant calling
* Normal-only WGS for germline variant calling

The datatype is judged by whether the bed file is set (i.e. the `regions` in inputs).
>**Annotation Tools**
* The fields corresponding to two tools include `annovar`, `vep`.
* All tools are <u>**not activated by default**</u>, which means the default setting is `false`.
* You need to manually set the caller to `true` in the submitted sample.csv.

### New Releases
* TNhaplotyper, named as TNseq in `v0.1.0`, has beed substituted by TNhaplotyper2.
@@ -57,8 +63,9 @@ The parameters that must need contains: sample_id,normal_fastq_1,normal_fastq_2,


**Please carefully check**
* the reference genome you want to use is hg38.
* the reference genome you want to use is hg38 or hg19.
* bed file.
* the caller you want to use.
* PoN VCFs for TNseq and TNscope is supported, but are need to be generated in advance.
* interval padding is default 0, and you can change it.
* interval padding is default 0, and you can change it.
* the annotation tool is ANNOVAR or VEP.

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