R05 Errata
The following issues have been identified subsequent to release R05; they will be addressed in an upcoming release:
GSS216499 has incorrect HPO terms
Several samples were flagged during pedigree and sex concordance checks.In the DCC joint callset (aligned_dna_short_read_id: GREGoR_DCC_A1_S4_<consent>), these included high-confidence sex concordance flags for the following participants:
- UW_CRDR-sub-1642847
- UW_CRDR-sub-1654667
In the Broad joint callset (aligned_dna_short_read_id: BROAD_A1_S1__<consent>), these included sample pairs with near-identical genotype profiles, representing possible duplicate samples, repeated samples from the same individual, or monozygotic twins, as well as high-confidence sex concordance flags. Participants near-identical genotype profiles are:
- Broad_BON_B15-76_2_1 / Broad_BON_B15-76_1_1
- Broad_BON_B16-59_1_1 / Broad_RGP_2058_3
- Broad_BON_B16-59_3_1 / Broad_RGP_2058_1_1
- Broad_BON_B16_30_1_D2 / Broad_BON_B16-30_1_1
- Broad_BON_B20-08_1_1 / Broad_RGP_1270_3
- Broad_BON_B20-08_2_1 / Broad_RGP_1270_2
- Broad_BON_B20-08_3_1 / Broad_RGP_1270_1
- Broad_DD239 / Broad_DD238
- Broad_FLE_FAM252_GBMID-01332_1_D1 / Broad_FLE_FAM254_GBMID-01332_1_D1
- Broad_RGP_1496_3 / Broad_RGP_1496_3_fbs
- Broad_RGP_1644_3 / Broad_BON_B17-59_1_1
- Broad_RGP_2599_5 / [no R05 participant ID for RGP_2599_3]
- Broad_RGP_3315_3 / Broad_BON_B24_42_1_D1
- Broad_RGP_399_3_M1 / Broad_RGP_399_3
- Broad_RGP_800_3 / Broad_RGP_800_3_muscle
- Broad_RGP_800_4 / Broad_RGP_800_3
- Broad_RGP_800_4 / Broad_RGP_800_3_muscle
Participants with high-confidence sex concordance flags are:
- Broad_BON_B17-54_1_D2
- Broad_BON_B24_60_3_D1
- Broad_DD67
- Broad_KUNK_1436-2_D1
- Broad_MAN_2626-01_Z1
- Broad_RGP_1129_4
- Broad_RGP_1221_1
- Broad_RGP_1242_1
- Broad_RGP_1661_3
- Broad_RGP_2694_3
- Broad_RGP_2694_4
- Broad_RGP_3091_1
- Broad_RGP_3257_3
- Broad_RGP_3501_3
- Broad_RGP_62_3
These issues will be reviewed and reconciled for the next GREGoR release.