UC14. Genome-wide Sequencing Analysis to Identify the Genes Responsible for Enchondromatoses and Related Malignant Tumors

[jay-nih]

UC14. Genome-wide Sequencing Analysis to Identify the Genes Responsible for Enchondromatoses and Related Malignant Tumors

Use case information: Please see one-pager

[cottonva]

@adeslatt This is a Kids First researcher so we should track and coordinate with NCI where needed.
This is the Kids First piece: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001987.v1.p1

[linikujp]

Meeting 3/7/2022:
Access to CBTN/CBTTC via CAVATICA is confirmed, which is different with the plan of accessing via CRDC. AnVIL data access can be obtained. CAVATICA data access is confirmed. The data access could be obtained in 2 weeks.

[linikujp]

Meetings update 6/6/2022:
The AnVIL data (not indexed by GEN3) can not be accessed from CAVATICA. There are solutions (https://bdcatalyst.gitbook.io/biodata-catalyst-documentation/written-documentation/getting-started/analyze-data-1/transferring-files-between-seven-bridges-and-terra) to copy data file from Terra to CAVATICA, however, this is not the interoperability solution. The team decided to start working on analysis without the AnVIL data (around 432 probands).
Note: the blocker is RAS.

[linikujp]

Find the KF webinar given by Nara on Sep. 29, 2022 3PM, and add to the website.

[suryasaha]

The KF webinar video mentions that the data integration is in progress