@@ -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 |
@@ -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", |