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# Start with an ubuntu system and update it | ||
FROM ubuntu:16.04 | ||
FROM ubuntu:18.04 | ||
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# Image label | ||
LABEL maintainer="Lantern Team <[email protected]>" \ | ||
software="Optimus Matrix Tester" | ||
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ENV DEBIAN_FRONTEND=noninteractive | ||
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# Enable source repositories to install deps for R and update the apt-get list | ||
RUN sed -Ei 's/^# deb-src /deb-src /' /etc/apt/sources.list && apt-get update | ||
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pipelines/broad/arrays/validate_chip/ValidateChip.changelog.md
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5
pipelines/broad/genotyping/illumina/IlluminaGenotypingArray.changelog.md
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| Pipeline Version | Date Updated | Documentation Author | Questions or Feedback | | ||
| :----: | :---: | :----: | :--------------: | | ||
| [Version 1.9](IlluminaGenotypingArray.wdl) | July 31, 2020 | [Elizabeth Kiernan](mailto:[email protected]) | Please file GitHub issues in warp or contact [Kylee Degatano](mailto:[email protected]) | | ||
| [Version 1.11.0](IlluminaGenotypingArray.wdl) | Oct 1, 2020 | [Elizabeth Kiernan](mailto:[email protected]) | Please file GitHub issues in warp or contact [Kylee Degatano](mailto:[email protected]) | | ||
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# Table of Contents | ||
- [Illumina Genotyping Array Pipeline Overview](#illumina-genotyping-array-pipeline-overview) | ||
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| Input name | Description | Required or Optional | Input format | | ||
| --- | --- | --- | --- | | ||
| call_rate_threshold | Minimal numeric value for a sample to have a passing call rate | Required | Value | | ||
| minor_allele_frequency_file | Cloud path to a chip-specific text file containing locus-id to minor allele frequency | Optional | String | | ||
| contamination_controls_vcf | Cloud path to a VCF of samples run on this chip type to be used to supplement contamination calling | Optional | String | | ||
| subsampled_metrics_interval_list | Cloud path to a file containing a subset sites for which the workflow generate metrics and outputs a VCF | Optional | String | | ||
| disk_size | Default disk (in GiB) for this workflow's cloud VMs | Required | Value | | ||
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| --- | --- | --- | | ||
| Autocall | [iaap-cli gencall](https://support.illumina.com/downloads/iaap-genotyping-cli.html) | Illumina | | ||
| GtcToVcf | [GtcToVcf](https://gatk.broadinstitute.org/hc/en-us/articles/360037595031-GtcToVcf-Picard-) | Picard | | ||
| BafRegress | [BafRegress](https://genome.sph.umich.edu/wiki/BAFRegress) | https://genome.sph.umich.edu/wiki/File:BafRegress.tar.gz | | ||
| VcfToAdpc | [VcfToAdpc](https://gatk.broadinstitute.org/hc/en-us/articles/360036484712-VcfToAdpc-Picard-) | Picard | | ||
| VerifyIDIntensity | [VerifyIDIntensity](https://github.com/gjun/verifyIDintensity) | https://github.com/gjun/verifyIDintensity | | ||
| CreateVerifyIDIntensityContaminationMetricsFile | [CreateVerifyIDIntensityContaminationMetricsFile](https://gatk.broadinstitute.org/hc/en-us/articles/360036805271) | Picard | | ||
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After genoytping, the workflow calls the GtcToVcf task, which runs the Picard tool [GtcToVcf](https://software.broadinstitute.org/gatk/documentation/tooldocs/current/picard_arrays_GtcToVcf.php) to convert the GTC into a VCF. | ||
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### 2. Contamination Detection | ||
Intra-species DNA contamination is a common problem for genotyping samples. To detect contamination, the Illumina Array workflow uses the software [VerifyIDIntensity](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487130/), which requires an 'adpc.bin' file (a binary file containing array intensity data that can be used with Illumina software) as input. The workflow first calls the [VcfToAdpc](https://software.broadinstitute.org/gatk/documentation/tooldocs/current/picard_arrays_VcfToAdpc.php) task to convert the VCF output from genotype calling into an 'adpc.bin' file. Next, the [VerifyIDIntensity](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487130/) task uses this input file to measure contamination. The [CreateVerifyIDIntensityContaminationMetricsFile](https://software.broadinstitute.org/gatk/documentation/tooldocs/current/picard_arrays_CreateVerifyIDIntensityContaminationMetricsFile.php) task then converts the VerifyIDIntensity output into a Picard-standard metrics file (chip_well_barcode.verifyidintensity_metrics), suitable for uploading to a metrics database. | ||
Intra-species DNA contamination is a common problem for genotyping samples. | ||
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The Illumina Array workflow uses two tools to detect contamination. These are BafRegress and VerifyIDIntensity. The use of VerifyIDIntensity is deprecated as it can overestimate estimated contamination when used in single-sample mode (as it is run typically) | ||
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[BafRegress](https://genome.sph.umich.edu/wiki/BAFRegress) is a software that detects and estimates sample contamination using B allele frequency data from Illumina genotyping arrays using a regression model. It requires a file formatted as an Illumina Final Report. The workflow takes care of this in the BafRegress task (which contains functionality to both create the Illumina Final Report from the VCF generated by GtcToVcf and then run the BafRegress tool itself. The output of a BafRegress task is a text file containing the estimated contamination along with associated metrics. | ||
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[VerifyIDIntensity](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487130/) requires an 'adpc.bin' file (a binary file containing array intensity data that can be used with Illumina software) as input. The workflow first calls the [VcfToAdpc](https://software.broadinstitute.org/gatk/documentation/tooldocs/current/picard_arrays_VcfToAdpc.php) task to convert the VCF output from genotype calling into an 'adpc.bin' file. Next, the [VerifyIDIntensity](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487130/) task uses this input file to measure contamination. The [CreateVerifyIDIntensityContaminationMetricsFile](https://software.broadinstitute.org/gatk/documentation/tooldocs/current/picard_arrays_CreateVerifyIDIntensityContaminationMetricsFile.php) task then converts the VerifyIDIntensity output into a Picard-standard metrics file (chip_well_barcode.verifyidintensity_metrics), suitable for uploading to a metrics database. | ||
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### 3. Rare Variant Calling (Optional) | ||
After running default genotype processing with Autocall, the Illumina Genotyping Array workflow optionally uses the [zCall](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463112/) task to improve calls on rare variants. To run this task, the workflow requires a zCall threshold file. If the workflow identifies the file, it will output a PLINK .ped and .map file. The [MergePedIntoVcf](https://software.broadinstitute.org/gatk/documentation/tooldocs/current/picard_arrays_MergePedIntoVcf.php) task then merges these outputs into the VCF generated during genotype calling. | ||
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| chip_well_barcode.vcf.gz | VCF generated by the pipeline | Required | Compressed VCF (vcf.gz) | | ||
| chip_well_barcode.vcf.gz.tbi | Index file of the VCF generated by the pipeline | Required | tabix index (vcf.gz.tbi) | | ||
| chip_well_barcode.gtc | GTC file generated by Autocall | Required | GTC | | ||
| chip_well_barcode.bafregress_metrics | Text output file generated by BafRegress | Optional | txt | | ||
| chip_well_barcode.verifyidintensity_metrics | File containing metrics generated by VerifyIDIntensity | Required | txt | | ||
| chip_well_barcode.arrays_variant_calling_detail_metrics | Detailed metrics file for the output VCF generated by CollectArraysVariantCallingMetrics.detail_metrics | Required | txt | | ||
| chip_well_barcode.arrays_variant_calling_summary_metrics | Summary metrics file for the output VCF as generated by CollectArraysVariantCallingMetrics | Required | txt | | ||
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pipelines/broad/reprocessing/external/exome/ExternalExomeReprocessing.changelog.md
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...es/broad/reprocessing/external/wgs/ExternalWholeGenomeReprocessing.changelog.md
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