The All of Us Researcher Workbench team released a hotfix for the All of Us Controlled Tier (CT) v7 Curated Data Repository (CDR) long-read whole genome sequencing data (lrWGS) on 2/8/24 to ensure accuracy with internal data procedures.
Our team discovered the original Telomere-to-Telomere (T2T) Hail MatrixTable (MT) did not follow the correct data quality procedures and had an aberrantly high no-call rate. The issue only affected the small variant (Single Nucleotide Polymorphism and Insertion-Deletion) T2Tv2.0 joint-called Hail MT. No other file formats or reference versions were affected.
As a result of the hotfix, the lrWGS small variant Hail MatrixTable (MT) on the T2T v2.0 reference genome has been updated. You can access the dataset using the same file path and environmental variable.
The changes are reflected in the Controlled CDR Directory as well as release notes.
If you have any questions regarding the hotfix, please contact us at support@researchallofus.org.
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