Gaea

Gaea is a tool for the semi-automated registration of genomics data to the European Genome-Phenome Archive (EGA). It is developed primarily around the OICR infrastructure.

Script register_EGA_metadata_Gaea.sh runs Gaea to:

• collect metadata registered at EGA
• evaluates the footprint on the staging server
• register new metadata for each EGA object

Adding data to the EGA database

1. Adding study information

usage: Gaea.py add_info study -c CREDENTIAL -md METADATADB -sd SUBDB -b BOXNAME -t TABLE -i INFORMATION

Parameters

argument	purpose	default	required/optional
-c	File with database and box credentials		required
-md	Database collecting metadata	EGA	required
-sd	Database with submission metadata	EGASUB	required
-b	EGA submission box		required
-t	Table with study information	Studies	required
-i	Table with analysis info to be added to EGASUB		required

The input information table is a a list of colon-separated key value pairs.

• alias: unique identifier associated with that study
• studyTypeId: EGA-controlled vocabulary. choose from Cancer Genomics, Epigenetics, Exome Sequencing, Forensic or Paleo-genomics, Gene Regulation Study, Metagenomics, Other, Pooled Clone Sequencing, Population Genomics, RNASeq, Resequencing, Synthetic Genomics, Transcriptome Analysis, Transcriptome Sequencing, Whole Genome Sequencing
• title: Study title
• studyAbstract: Abstract describing the study

Example:

alias:AML_error_modeling studyTypeId:Cancer Genomics title:Integration of intra-sample contextual error modeling for improved detection of somatic mutations studyAbstract:Sensitive mutation detection by next generation sequencing is of great importance for early cancer detection, monitoring minimal residual disease (MRD), and guiding precision oncology. Nevertheless, due to technical artefacts introduced during library preparation and sequencing steps as well as sub-optimal mutation calling analysis, the detection of variants with low allele frequency at high specificity is still problematic. Herein we validate a new practical error modeling technique for improved detection of single nucleotide variant (SNV) from hybrid-capture and targeted next generation sequencing.

2. Adding DAC information

The DAC lists the names and contact information of each person accredited to authorize data access.

usage: Gaea.py add_info dac -c CREDENTIAL -md METADATADB -sd SUBDB -b BOXNAME -t TABLE -i INFORMATION -a ALIAS -tl TITLE

Parameters

argument	purpose	default	required/optional
-c	File with database and box credentials		required
-md	Database collecting metadata	EGA	required
-sd	Database with submission metadata	EGASUB	required
-b	EGA submission box		required
-t	Table with DAC information	Dacs	required
-a	unique alias for the DAC		required
-tl	Title of the DAC		required
-i	File with DAC information		optional

Input information table should contain the following columns:

• contactName: First and last name
• email: email address
• organisation: institution
• phoneNumber: phone number of the contact
• mainContact: true/false if the person is the primary contact

Example:

contactName email organisation phoneNumber mainContact John Smith [email protected] Ontario Institute for Cancer Research xxx-xxx-xxxx true Jane Doe [email protected] Ontario Institute for Cancer Research xxx-xxx-xxxx false

3. Adding policy information

usage: Gaea.py add_info policy -c CREDENTIAL -md METADATADB -sd SUBDB -b BOXNAME -t TABLE -a ALIAS -d DACID -tl TITLE -pf POLICYFILE -pt POLICYTEXT -u URL

Parameters

argument	purpose	default	required/optional
-c	File with database and box credentials		required
-md	Database collecting metadata	EGA	required
-sd	Database with submission metadata	EGASUB	required
-b	EGA submission box		required
-t	Table with policy information	Policies	required
-a	unique alias for the policy		required
-d	EGA accession ID for the corresponding DAC		required
-tl	Title of the policy		required
-pf	File with the template policy text		optional
-pt	Policy text		optional
-u	URL of the DAC or study		optional

-pt or pf must be used.

4. Adding samples information

Adding samples information

usage: Gaea.py add_info samples -c CREDENTIAL -md METADATADB -sd SUBDB -b BOXNAME -t TABLE -a ATTRIBUTES -i INFO

Parameters

argument	purpose	default	required/optional
-c	File with database and box credentials		required
-md	Database collecting metadata	EGA	required
-sd	Database with submission metadata	EGASUB	required
-b	EGA submission box		required
-t	Table with samples information	Samples	required
-i	Table with samples info to be added to EGASUB		required
-a	Primary key in the SamplesAttributes table		required

The -i information table contains the following columns:

• alias: unique sample identifier
• caseOrControlId: EGA-controlled vocabulary, choose from case or control
• genderId: EGA-controlled vocabulary, choose from male, female and unknown
• phenotype: sample phenotype
• subjectId: sample Id

Example:

alias	caseOrControlId	genderId	phenotype	subjectId
CB1	control	female	Cord blood	CB1
CB2	control	male	Cord blood	CB2
CB3	control	male	Cord blood	CB3

Adding samples attributes information

Sample attributes are assigned to a group of samples. It is required to split samples into subsets if different attributes must be associated with a group of samples.

usage: Gaea.py add_info samples_attributes -c CREDENTIAL -md METADATADB -sd SUBDB -b BOXNAME -t TABLE -i INFO

Parameters

argument	purpose	default	required/optional
-c	File with database and box credentials		required
-md	Database collecting metadata	EGA	required
-sd	Database with submission metadata	EGASUB	required
-b	EGA submission box		required
-t	Table with sample attributes information	SamplesAttributes	required
-i	Table with sample attributes info to be added to EGASUB		required

Table information is a colon-separated list of key, value pairs:

• alias: unique attribute alias. must be the same value passed to -a when adding sample information
• title: sample title
• description: short description of the samples

It is possible to add custom attributes using tags of colon-separated key, value pairs preceded by "attributes". For instance, add the following line to specify the origin of a group of subjects: attributes:origin:canada

Example:

alias:AMLErrModel title:AML description:Intra-sample error modeling

5. Adding analyses information

Adding analysis information

usage: Gaea.py add_info analyses -c CREDENTIAL -md EGA -sd EGASUB -b BOX -t TABLE -i INFO -p PROJECTS -a ATTRIBUTES

Parameters

argument	purpose	default	required/optional
-c	File with database and box credentials		required
-md	Database collecting metadata	EGA	required
-sd	Database with submission metadata	EGASUB	required
-b	EGA submission box		required
-t	Table with analyses information	Analyses	required
-i	Table with analysis info to be added to EGASUB		required
-p	Primary key in the AnalysesProjects table		required
-a	Primary key in the AnalysesAttributes table		required

Information to register analyses objects is stored in Analyses, AnalysesProjects and AnalysesAttributes tables. Primary keys to tables AnalysesProjects and AnalysesAttributes are required parameters to link all tables. Analysis project and attributes store information that be can be re-used for multiple submissions.

The information table should be formatted following the examples below and follows these rules:

• alias: a unique record for the file or group of files
• sampleReferences: alias of the registered sample of sample accession ID can be a unique alias or ID or semi-colon separated aliases or sample IDs if the file contains data from multiple samples
• filePath: path of the file on the file system
• fileName (optional): name of the uploaded file at EGA (file basename of omitted)
• analysisDate (optional): date the file was generated

Group files by using the same alias on separate lines. Columns fileName and analysisDate are optional.

Example 1:

alias	sampleReferences	filePath	fileName	analysisDate
PCSI_0024_Pa_P_PCSI_SC_WGS	PCSI_0024_Pa_P	/path_to/PCSI_0024_Pa_P.bam	PCSI_0024_Pa_P_whole_genome.bam	02/08/21
PCSI_0102_Ly_R_PCSI_SC_WGS	PCSI_0102_Ly_R	/path_to/PCSI_0102_Ly_R.bam	PCSI_0102_Ly_R_whole_genome.bam	02/08/21

Example 2:

alias	sampleReferences	filePath
CPCG0001-B1_realigned_recalibrated_merged_reheadered_WGS	CPCG0001-B1	/path_to/CPCG0001-B1_realigned_recalibrated_merged_reheadered.bam
CPCG0001-B1_realigned_recalibrated_merged_reheadered_WGS	CPCG0001-B1	/path_to/CPCG0001-B1_realigned_recalibrated_merged_reheadered.bam.bai
CPCG0001-F1_realigned_recalibrated_merged_reheadered_WGS	CPCG0001-F1	/path_to/CPCG0001-F1_realigned_recalibrated_merged_reheadered.bamh
CPCG0001-F1_realigned_recalibrated_merged_reheadered_WGS	CPCG0001-F1	/path_to/CPCG0001-F1_realigned_recalibrated_merged_reheadered.bam.bai

Adding analysis project information

usage: Gaea.py add_info analyses_attributes -c CREDENTIAL -md EGA -sd EGASUB -b BOX -t TABLE -i INFO -d DATATYPE

Parameters

argument	purpose	default	required/optional
-c	File with database and box credentials		required
-md	Database collecting metadata	EGA	required
-sd	Database with submission metadata	EGASUB	required
-b	EGA submission box		required
-t	Table with project information	AnalysesProjects	required
-i	Table with project info to be added to EGASUB		required
-d	Datatype	Projects	required

Input table is is a colon-separated list of key, value pairs. analysisTypeId and experimentTypeId are EGA-controlled vocabulary describing the analysis and experiment.

• alias: alias of the project. must be the same value passed to -p when adding analysis information
• analysisCenter:OICR
• studyId: EGA study accession ID EGASxxxxx
• Broker: EGA
• analysisTypeId: EGA-controlled vocabulary. choose from Reference Alignment (BAM), Sequence variation (VCF), Sample Phenotype
• experimentTypeId: EGA-controlled vocabulary. choose from Curation, Exome sequencing, Genotyping by array, Whole genome sequencing, transcriptomics

Example:

alias:PanCurX_SC_WGS analysisCenter:OICR studyId:EGAS00001002543 Broker:EGA analysisTypeId:Reference Alignment (BAM) experimentTypeId:Whole genome sequencing

Adding analysis attributes information

Attributes are assigned to a group of files. It is required to split analysis files into subsets of different attributes must be associated.

usage: Gaea.py add_info analyses_attributes -c CREDENTIAL -md EGA -sd EGASUB -b BOX -t TABLE -i INFO -d DATATYPE

Parameters

argument	purpose	default	required/optional
-c	File with database and box credentials		required
-md	Database collecting metadata	EGA	required
-sd	Database with submission metadata	EGASUB	required
-b	EGA submission box		required
-t	Table with project information	AnalysesAttributes	required
-i	Table with project info to be added to EGASUB		required
-d	Datatype	Attributes	required

Input table is a colon-separated list key, value pairs.

• alias: alias associated with the analysis attributes. must be the same value passed to -a when adding analysis information
• title: title associated with the submission
• description: short description of the data being registered
• genomeId: EGA-controlled vocabulary. choose between GRCh37, GRCh38
• StagePath: directory on the staging server where files will be uploaded

It is possible to add custom attributes using tags of colon-separated key, value pairs preceded by "attributes". For instance, add the following line to specify the aligner used in the analysis: attributes:aligner:BWA

Example:

alias:PanCurX_SC_WGS title:WGS alignment description:Whole genome sequence data was aligned against the human reference genome (GRCh37) genomeId:GRCh37 StagePath:PCSI/SC/wgs attributes:aligner:BWA attributes:aligner_ver:0.6.2

6. Adding runs information

usage: Gaea.py add_info runs -c CREDENTIAL -md METADATADB -sd SUBDB -b BOXNAME -t TABLE -i INFORMATION -f FILE_TYPE -sp STAGE_PATH

Parameters

argument	purpose	default	required/optional
-c	File with database and box credentials		required
-md	Database collecting metadata	EGA	required
-sd	Database with submission metadata	EGASUB	required
-b	EGA submission box		required
-t	Table with runs information	Runs	required
-i	Table with runs info to be added to EGASUB		required
-f	File type. EGA-controlled vocabulary. choose from "One Fastq file (Single)", "Two Fastq files (Paired)"		required
-sp	Directory on the staging server where files are uploaded		required

The -i information table should contain the the following columns

• alias: unique identifier for the file or group of files. double underscore "__" is not allowed in alias
• sampleId: alias used to register the same or sample accession ID
• experimentId: alias used to register the experiment or experiment accession ID
• filePath: path to file on the file system
• fileName: name of the file to be uploaded at EGA. File basename is used if this column is omitted

Group files by using the same alias on separate lines. Columns fileName is optional.

Example:

alias	sampleId	experimentId	filePath
PCSI_0106_Pa_P_526_rnaseq	PCSI_0106_Pa_P_526	PCSI_0106_Pa_P_526.rnaseq.libA.1	/path_to/PCSI_0106_Pa_P_526_unmapped_R1.fastq.gz
PCSI_0106_Pa_P_526_rnaseq	PCSI_0106_Pa_P_526	PCSI_0106_Pa_P_526.rnaseq.libA.1	/path_to/PCSI_0106_Pa_P_526_unmapped_R2.fastq.gz
PCSI_0224_Pa_P_526_rnaseq	PCSI_0224_Pa_P_526	PCSI_0224_Pa_P_526.rnaseq.libA.1	/path_to/PCSI_0224_Pa_P_526_unmapped_R1.fastq.gz
PCSI_0224_Pa_P_526_rnaseq	PCSI_0224_Pa_P_526	PCSI_0224_Pa_P_526.rnaseq.libA.1	/path_to/PCSI_0224_Pa_P_526_unmapped_R2.fastq.gz

7. Adding experiments information

usage: Gaea.py add_info experiments -c CREDENTIAL -md METADATADB -sd SUBDB -b BOXNAME -t TABLE -i INFORMATION -tl TITLE -st STUDY -d DESCRIPTION -in INSTRUMENT -s SELECTION -sc SOURCE -sg STRATEGY -p PROTOCOL -la LIBRARY

Parameters

argument	purpose	default	required/optional
-c	File with database and box credentials		required
-md	Database collecting metadata	EGA	required
-sd	Database with submission metadata	EGASUB	required
-b	EGA submission box		required
-t	Table with experiments information	Experiments	required
-i	Table with runs info to be added to EGASUB		required
-tl	Short experiment title		required
-st	Study alias or study accession Id		required
-d	Library description		required
-in	Instrument model. EGA-controlled vocabulary		required
-s	Library selection. EGA-controlled vocabulary		required
-sc	Library source. EGA-controlled vocabulary		required
-sg	Library strategy. EGA-controlled vocabulary		required
-p	Library construction protocol. can be empty string		required
-la	Library 0 for paired and 1 for single end sequencing		required

-s Library selection is an EGA-controlled vocabulary. Choose from: 5-methylcytidine antibody, CAGE, ChIP, ChIP-Seq, DNase, HMPR, Hybrid Selection, Inverse rRNA, Inverse rRNA selection, MBD2 protein methyl-CpG binding domain, MDA, MF, MNase, MSLL, Oligo-dT, PCR, PolyA, RACE, RANDOM, RANDOM PCR, RT-PCR, Reduced Representation, Restriction Digest, cDNA, cDNA_oligo_dT, cDNA_randomPriming, other, padlock probes capture method, repeat fractionation, size fractionation, unspecified

-sc Library source is an EGA-controlled vocabulary. Choose from: GENOMIC SINGLE CELL, METAGENOMIC, METATRANSCRIPTOMIC, OTHER, SYNTHETIC, TRANSCRIPTOMIC, TRANSCRIPTOMIC SINGLE CELL, VIRAL RNA

-sg Library strategy is an EGA-controlled vocabulary. Choose from AMPLICON, ATAC-seq, Bisulfite-Seq, CLONE, CLONEEND, CTS, ChIA-PET, ChIP-Seq, DNase-Hypersensitivity, EST, FAIRE-seq, FINISHING, FL-cDNA, Hi-C, MBD-Seq, MNase-Seq, MRE-Seq, MeDIP-Seq, OTHER, POOLCLONE, RAD-Seq, RIP-Seq, RNA-Seq, SELEX, Synthetic-Long-Read, Targeted-Capture, Tethered Chromatin Conformation Capture, Tn-Seq, VALIDATION, WCS, WGA, WGS, WXS, miRNA-Seq, ncRNA-Seq, ssRNA-seq

-in Instrument is an EGA-controlled vocabulary. Choose from:

• ABI SOLID Models, AB 5500 Genetic Analyzer, AB 5500xl Genetic Analyzer, AB 5500xl-W Genetic Analysis System, AB SOLiD 3 Plus System, AB SOLiD 4 System, AB SOLiD 4hq System, AB SOLiD PI System, AB SOLiD System, AB SOLiD System 2.0, AB SOLiD System 3.0, AB 310 Genetic Analyzer, CAPILLARY Models, AB 3130 Genetic Analyzer, AB 3130xL Genetic Analyzer, AB 3500 Genetic Analyzer, AB 3500xL Genetic Analyzer, AB 3730 Genetic Analyzer, AB 3730xL Genetic Analyzer
• COMPLETE GENOMICS Models, Complete Genomics
• HELICOS Models, Helicos HeliScope
• ILLUMINA Models, HiSeq X Five, HiSeq X Ten, Illumina Genome Analyzer, Illumina Genome Analyzer II, ILLUMINA Models, Illumina Genome Analyzer IIx, Illumina HiScanSQ, Illumina HiSeq 1000, Illumina HiSeq 1500, Illumina HiSeq 2000, Illumina HiSeq 2500, Illumina HiSeq 3000, Illumina HiSeq 4000, Illumina MiSeq, Illumina MiniSeq, Illumina NovaSeq 6000, NextSeq 500, NextSeq 550
• ION TORRENT Models, Ion Torrent PGM, Ion Torrent Proton, Ion Torrent S5, Ion Torrent S5 XL
• LS454 Models, 454 GS, 454 GS 20, 454 GS FLX, 454 GS FLX Titanium, 454 GS FLX+, 454 GS Junior
• OXFORD NANOPORE Models, GridION, MinION, PromethION
• PACBIO SMRT Models, PacBio RS, PacBio RS II, Sequel

Example:

sampleId	alias	libraryName
PCSI_0106_Pa_P_526	PCSI_0106_Pa_P_526.rnaseq.libA.1	PCSI_0106_Pa_P_526.rnaseq.libA
PCSI_0224_Pa_P_526	PCSI_0224_Pa_P_526.rnaseq.libA.1	PCSI_0224_Pa_P_526.rnaseq.libA
PCSI_0384_Pa_P_526	PCSI_0384_Pa_P_526.rnaseq.libA.1	PCSI_0384_Pa_P_526.rnaseq.libA

8. Adding datasets information

usage: Gaea.py add_info datasets -c CREDENTIAL -md METADATADB -sd SUBDB -b BOXNAME -t TABLE -a ALIAS -p POLICY -ds DESCRIPTION -tl TITLE -di DATASET_TYPEIDS -acs ACCESSIONS -dl DATASETS_LINKS -at ATTRIBUTES

Parameters

argument	purpose	default	required/optional
-c	File with database and box credentials		required
-md	Database collecting metadata	EGA	required
-sd	Database with submission metadata	EGASUB	required
-b	EGA submission box		required
-t	Table with datasets information	Datasets	required
-a	Unique alias for the dataset		required
-p	Policy alias or accession ID		required
-ds	Dataset short description		required
-tl	Datset short title		required
-di	Dataset type Id. EGA-controlled vocabulary		required
-acs	File with analyses and/or runs accession IDs		required
-dl	File with dataset URLs		optional
-at	File with dataset attributes		optional

-di Dataset type Id is an EGA-controlled vocabulary. Choose from: Amplicon sequencing, Chip-Seq, Chromatin accessibility profiling by high-throughput sequencing, Exome sequencing, Genomic variant calling, Genotyping by array, Histone modification profiling by high-throughput sequencing, Methylation binding domain sequencing, Methylation profiling by high-throughput sequencing, Phenotype information, Study summary information, Transcriptome profiling by array, Transcriptome profiling by high-throughput sequencing, Whole genome sequencing

-acs File with analyses and/or runs accessions is a one-column table formatted as follow:

EGAR00001589680

EGAR00001589682

EGAR00001589683

EGAZ00001312940

EGAZ00001312942

EGAZ00001312943