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fix input

master
LUYAO REN 6 years ago
parent
commit
d061808b9c
2 changed files with 10 additions and 4 deletions
  1. +8
    -2
      README.md
  2. +2
    -2
      inputs

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README.md View File

@@ -6,7 +6,7 @@

**(1) Mapping to the reference genome (STAR)**

Aligning RNAseq data to a reference genome is complicates by RNA splicing, [GATK RNAseq variant calling best practice](<https://software.broadinstitute.org/gatk/documentation/article.php?id=3891>) recommend [STAR](<https://github.com/alexdobin/STAR>).
Aligning RNAseq data to a reference genome is complicates by RNA splicing, [GATK RNAseq variant calling best practice](<https://software.broadinstitute.org/gatk/documentation/article.php?id=3891>) recommends [STAR](<https://github.com/alexdobin/STAR>).

Generate genome index files:

@@ -100,4 +100,10 @@ Hard filtration is applied, for GATK do not yet have the RNAseq training/truth r
```bash
java -jar GenomeAnalysisTK.jar -T VariantFiltration -R hg_19.fasta -V input.vcf -window 35 -cluster 3 -filterName FS -filter "FS > 30.0" -filterName QD -filter "QD < 2.0" -o output.vcf
```

**Reference**
1. GATK best practice https://software.broadinstitute.org/gatk/documentation/article.php?id=3891
2. Sentieon manual https://support.sentieon.com/manual/RNA_call/rna/
3. STAR github https://github.com/alexdobin/STAR
4. Picard github https://github.com/broadinstitute/picard
5. Picard manual https://broadinstitute.github.io/picard/
6. samtools manual http://www.htslib.org/doc/samtools.html

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inputs View File

@@ -13,9 +13,9 @@
"{{ project_name }}.fastq_2": "{{ read2 }}",
"{{ project_name }}.dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/",
"{{ project_name }}.cluster_config": "{{ cluster if cluster != '' else 'OnDemand ecs.sn1ne.8xlarge img-ubuntu-vpc' }}",
"{{ project_name }}.SAref_dir": "File",
"{{ project_name }}.SAref_dir": "oss://chinese-quartet/quartet-storage-data/reference_data/STAR_GRCh38/",
"{{ project_name }}.SAMdocker": "registry-vpc.cn-shanghai.aliyuncs.com/pgx-docker-registry/samtools",
"{{ project_name }}.STref_dir": "oss://chinese-quartet/quartet-storage-data/reference_data/STAR_GRCh38/",
"{{ project_name }}.STref_dir": "oss://chinese-quartet/quartet-storage-data/reference_data/",
"{{ project_name }}.db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf",
"{{ project_name }}.sample": "{{ sample }}",
"{{ project_name }}.dbsnp": "dbsnp_146.hg38.vcf",

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