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NIH-NCPI / NCPI_use_case_tracker

This repo is for tracking NCPI interoperability use cases.
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UC14. Genome-wide Sequencing Analysis to Identify the Genes Responsible for Enchondromatoses and Related Malignant Tumors #21

Open jay-nih opened 2 years ago

jay-nih commented 2 years ago

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

Use case information: Please see one-pager

cottonva commented 2 years ago

@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 commented 2 years ago

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 commented 2 years ago

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 commented 1 year ago

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

suryasaha commented 1 year ago

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

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