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Workflows V1

Workflows associated with version 1 of the Assay

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BAM Generation & Quality Control

Overview of the BAM Generation and Quality Control workflow

Github Location -> https://github.com/mskcc/ACCESS-Pipeline/blob/master/workflows/ACCESS_pipeline.cwlarrow-up-right

Tools Used:

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Variant Calling

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Small Variants

Github Location ->

Tools Used:

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Copy Number Variant (CNV)

Github Location ->

Refer to Bioinformatics Pipeline to Detect CNA's section in this paper for details:

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Structural Variant (SV)

Github Location ->

Tool Used:

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Microsatellite Instability Status (MSI)

Github Location ->

Tool Used:

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Configurations

Voyager has all our configurations in the jinja template, it includes all the paths for various files and tools associated with the workflows, all location are on JUNO:

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snps_indels:

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CNV:

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Fastq_to_bam:

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MSI:

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SV :

BWAarrow-up-right
Trimgalorearrow-up-right
GATKarrow-up-right
Picard Toolsarrow-up-right
ABRA2arrow-up-right
Marianasarrow-up-right
https://github.com/mskcc/ACCESS-Pipeline/blob/master/workflows/subworkflows/snps_and_indels.cwlarrow-up-right
VardictJavaarrow-up-right
MuTectarrow-up-right
VCF2MAFarrow-up-right
https://github.com/mskcc/ACCESS-Pipeline/blob/master/workflows/subworkflows/call_cnv.cwlarrow-up-right
Dara S. Ross, Ahmet Zehir, Donavan T. Cheng, Ryma Benayed, Khedoudja Nafa, Jaclyn F. Hechtman, Yelena Y. Janjigian, Britta Weigelt, Pedram Razavi, David M. Hyman, José Baselga, Michael F. Berger, Marc Ladanyi, Maria E. Arcila, Next-Generation Assessment of Human Epidermal Growth Factor Receptor 2 (ERBB2) Amplification Status: Clinical Validation in the Context of a Hybrid Capture-Based, Comprehensive Solid Tumor Genomic Profiling Assay, The Journal of Molecular Diagnostics, Volume 19, Issue 2, 2017, Pages 244-254, ISSN 1525-1578, https://doi.org/10.1016/j.jmoldx.2016.09.010.arrow-up-right
https://github.com/mskcc/ACCESS-Pipeline/blob/master/workflows/subworkflows/manta.cwlarrow-up-right
Mantaarrow-up-right
iAnnotateSVarrow-up-right
https://github.com/mskcc/ACCESS-Pipeline/blob/master/workflows/subworkflows/msi.cwlarrow-up-right
ADMIEarrow-up-right
beagle/input_template.json.jinja2 at master · mskcc/beagle (github.com)arrow-up-right
beagle/input_template.json.jinja2 at master · mskcc/beagle (github.com)arrow-up-right
beagle/input_template.json.jinja2 at master · mskcc/beagle (github.com)arrow-up-right
beagle/input_template.json.jinja2 at master · mskcc/beagle (github.com)arrow-up-right
beagle/input_template.json.jinja2 at master · mskcc/beagle (github.com)arrow-up-right
BAM files used for the workflows