Step 4 - Ingest Data

Deposit genomic data files and all TSV files into AnVIL owned bucket(s) on Google Cloud.

You’ll work with a designated POC at the AnVIL team to shepherd the data (genomic data files and TSV load files for data tables) into the AnVIL data storage repository. Note that because each engagement will most likely be different, we will be further developing and refining (as needed) processes as we engage with submitters.

For actions taken prior to final process refinement, all transfers should involve the Data Processing WG and AnVIL team to ensure data integrity during the transfer process.

4.1 - Move Files to a Workspace Bucket

To move your files to a workspace bucket:

  1. Register a service account - See Register service account to move data.
  2. Install gsutil locally - gsutil is a Python application that lets you access Gogle Cloud Storage from the command line in a terminal. It’s more efficient than using the AnVIL UI to move large numbers and/or large files. You will need to install gsutil from the terminal on your local machine. See How to install gsutil for instructions.
  3. Copy files - Once you have installed gsutil, run the following code in the terminal to copy files to the workspace bucket: gsutil cp local directory/filename gs://fc-your-workspace-bucket-id

Copying Multiple Files

You can use * in place of filenames to copy everything in a directory. So, for example, cp * gs://fc-12345 will copy all files in the root directory where the terminal is running to the workspace bucket gs://fc-12345.

Files to Copy

  • All genomic data files
  • All TSV load files in the Data Model

    • subject.tsv
    • sample.tsv
    • sequencing.tsv
    • discovery.tsv
    • family.tsv (optional)
    • Any additional optional tables

For additional instructions on copying files to a workspace bucket using gsutil, see Moving data to or from a workspace Google bucket.

4.2 Validation Steps (Automated)

Quality Assurance Monitoring

The transfer of data will be monitored and logged to ensure the integrity of the transfer and be included in the Ingestion certification of analysis (see below). This includes automated confirmation that the file transfers were successful and MD5sums are intact, performed by the GCP services at the time of transfer.

Ingestion Validation (automated)

To confirm the ingested data transferred as expected and maintained the file integrity, Google automatically checks the md5 sum of the end file against the original after each file transfer. These tests will be documented in the Ingestion protocol/pipeline execution plan and executed once data has been ported to AnVIL.

Ingestion CoA

This certification of analysis (CoA) documents the transfer of data. The CoA is signed off by AnVIL and the data submitting party. This document will be available along with the ingested data for public consumption.

QC and Processing (Functional Equivalence)

The AnVIL seeks to maximize the value of AnVIL-hosted data and minimize batch effects in cross-project analyses (Regier et al., 2018). Ingested genomic data will be subject to quality control and harmonization. CCDG and TOPMed consortia have defined a functional equivalence (FE) standard for alignment and processing of whole-genome sequencing data(i.e. WGS). , with the

AnVIL strongly encourages the submission of FE-compliant genome and exome sequencing data aligned to GRChB38. (See

With exceptions (e.g., for legacy data sets), data not compliant with the FE standard may be aligned to GRChb38 and reprocessed, at the discretion of the Data Ingestion Committee.

After reprocessing, quality control metrics for genome and exome sequencing data will be collected using multiple software packages (e.g., Picard, VerifyBamID2, Samtools flagstat, bamUtil stats) organized in a single Workflow Definition Language workflow. These metrics will be evaluated for depth and breadth of coverage, base-mismatch rate, rate of properly-paired reads, and sample contamination to determine QC pass/fail status. QC metrics will also be made available in the AnVIL workspace to aid users in sample selection.

Data Indexing

Once in the workspace buckets, object files, such as sequencing data, are indexed with a global unique ID (GUID). This allows for access across AnVIL tools, without requiring copies to be created and transferred across environments.

These identifiers allow for tracking data across components of AnVIL and facilitate the ability to interoperate with other data commons due to their extensibility. Further, they enable tracking of live data being processed in workflow pipelines, and data backup to cold storage.

3 - Prepare for SubmissionConsortium Data Access Guidelines
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