Releases: UW-GAC/gregor_data_models
Releases · UW-GAC/gregor_data_models
v1.6
1.6
Table |
Field |
Change notes |
called_variants_nanopore |
variant_types |
added STR as enumerated value |
called_variants_pac_bio |
variant_types |
added STR as enumerated value |
genetic_findings |
experiment_id |
added 'see_notes' and 'see_MOD' as example values (this field will be required for validation) |
genetic_findings |
variant_type |
added more specific enumerated values (possibly with delimiter) to match 'called_variants' tables |
genetic_findings |
pos |
added note describing that this is .vcf-style coordinates |
genetic_findings |
pos |
updated conditional requirement to align with variant_type change |
genetic_findings |
GREGoR_variant_classification |
required if known disease gene |
genetic_findings |
gene_disease_validity_notes |
required if known disease gene |
genetic_findings |
gene_disease_validity_notes |
added; not required |
genetic_findings |
VRS_ID |
added; not required |
experiment_rna_short_read |
depletion_targets |
added; not required |
called_variants_nanopore |
chrom |
added; not required |
called_variants_pac_bio |
chrom |
added; not required |
called_variants_optical_mapping |
chrom |
added; not required |
aligned_nanopore |
num_reads |
changed data type to float for large number support |
aligned_nanopore |
num_bases |
changed data type to float for large number support |
aligned_nanopore |
num_aligned_reads |
changed data type to float for large number support |
aligned_nanopore |
num_aligned_bases |
changed data type to float for large number support |
aligned_nanopore |
read_length_mean |
changed data type to float |
aligned_pac_bio |
num_reads |
changed data type to float for large number support |
aligned_pac_bio |
num_bases |
changed data type to float for large number support |
aligned_pac_bio |
num_aligned_reads |
changed data type to float for large number support |
aligned_pac_bio |
num_aligned_bases |
changed data type to float for large number support |
aligned_pac_bio |
read_length_mean |
changed data type to float |
analyte |
analyte_type |
added PBMC as enumerated value |
v1.5
1.5
Table |
Field |
Change notes |
genetic_findings |
variant_type |
added SV as allowable type |
genetic_findings |
sv_type |
added; not required |
genetic_findings |
chrom |
changed from required to conditional |
genetic_findings |
chrom_end |
added; not required |
genetic_findings |
pos |
changed from required to conditional |
genetic_findings |
pos_end |
added; not required |
genetic_findings |
ref |
changed from required to conditional |
genetic_findings |
alt |
changed from required to conditional |
genetic_findings |
copy_number |
added; not required |
genetic_findings |
gene_of_interest |
renamed 'gene' field, made conditional, expanded notes |
genetic_findings |
hgvs |
added; not required |
genetic_findings |
zygosity |
added to list of allowable enumerations |
genetic_findings |
gene_disease_validity |
added; not required |
experiment_dna_short_read |
sequencing_event_details |
added; not required |
GREGoR_Data_Model_v1.5.pdf
v1.4
1.4
Table |
Field |
Change notes |
experiement_rna_short_read |
total_reads |
change data type to float to accommodate validation for numbers of reads >2^31 |
phenotype |
syndromic |
added; not required |
aligned |
aligned_file |
will be populated by DCC in post-processing - no impact on data submitters. |
aligned |
aligned_file_index |
will be populated by DCC in post-processing - no impact on data submitters. |
experiment_dna_short_read |
experiment_sample_id |
field now required |
experiment_dna_short_read |
sequencing_event_details |
added; not required |
experiment_rna_short_read |
total_reads |
changed data type to float for large number support |
experiment_nanopore |
seq_library_prep_kit_method |
added 'Unknown' ennumeration to allow for external data received where library prep kit is unknown |
aligned_nanopore |
quality_issues |
added; not required |
experiment_pac_bio |
size_selection_method |
added; not required |
experiment_pac_bio |
library_size |
added; not required |
experiment_pac_bio |
smrt_cell_kit |
added; not required |
experiment_pac_bio |
smrt_cell_id |
added; not required |
experiment_pac_bio |
movie_name |
added; not required |
experiment_pac_bio |
polymerase_kit |
added; not required |
experiment_pac_bio |
sequencing_kit |
added; not required |
experiment_pac_bio |
movie_length_hours |
added; not required |
experiment_pac_bio |
includes_kinetics |
added; not required |
experiment_pac_bio |
includes_CpG_methylation |
added; not required |
experiment_pac_bio |
by_strand |
added; not required |
v1.3
Version 1.3 of the data model adds additional tables to support Pac Bio long read and ATAC short read technology. A new genetic_findings table tracks genetic findings and additional columns in the participant table track solve status. A new 'aligned' table summarizes all aligned read files for participants in the same table, similar to the experiment table.
Version |
Table |
Field |
Change notes |
1.3 |
genetic_findings |
all |
table added |
1.3 |
experiment_pac_bio |
all |
table added |
1.3 |
aligned_pac_bio |
all |
table added |
1.3 |
aligned_pac_bio_set |
all |
table added |
1.3 |
called_variants_pac_bio |
all |
table added |
1.3 |
experiment_atac_short_read |
all |
table added |
1.3 |
aligned_atac_short_read |
all |
table added |
1.3 |
called_peaks_atac_short_read |
all |
table added |
1.3 |
allele_specific_atac_short_read |
all |
table added |
1.3 |
experiment |
table_name |
DCC added 'experiment_nanopore, experiment_pac_bio, and experiment_atac_short_read' as valid experiment types - no impact to data submitters. |
1.3 |
aligned |
all |
table added - will be populated by DCC in post-processing - no impact on data submitters. |
1.3 |
participant |
solve_status |
required field added |
1.3 |
participant |
missing_variant_case |
required field added |
1.3 |
participant |
missing_variant_details |
optional field added |
v1.2
Version 1.2 of the data model adds additional tables to support nanopore technology.
Version |
Table |
Field |
Change notes |
1.2 |
experiment_nanopore |
all |
table added |
1.2 |
aligned_nanopore |
all |
table added |
1.2 |
aligned_nanopore_set |
all |
table added |
1.2 |
called_variants_nanopore |
all |
table added |
1.2 |
aligned_dna_short_read |
all |
DCC added 'Is Unique' column to data model document to support validation - no impact to data submitters. |
1.2 |
called_variants_dna_short_read |
all |
DCC added 'Is Unique' column to data model document to support validation - no impact to data submitters. |
1.2 |
aligned_rna_short_read |
all |
DCC added 'Is Unique' column to data model document to support validation - no impact to data submitters. |
1.2 |
aligned_nanopore |
all |
DCC added 'Is Unique' column to data model document to support validation - no impact to data submitters. |
1.2 |
called_variants_nanopore |
all |
DCC added 'Is Unique' column to data model document to support validation - no impact to data submitters. |