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