Completed Projects

Prior to the interoperability project awards, the NCPI program was guided by cross-platform demonstration projects, which exercised specific scientific and technical use cases related to cloud-platform interoperability. Feedback from the projects was used to aid in the discovery of detailed interoperability requirements and validate the utility of the developed features.

Genetic Bases of Congenital Heart Defects Goldmuntz

Platforms - NHLBI BioData Catalyst + Kids First DRC

In this research, we intend to study the genetic bases of congenital heart defects using variant and gene set analysis approaches, machine learning methods, amongst other statistical and genetic analysis models to help fill in the gaps that exist in the understanding of the etiology of CHDs. This will help the scientific community to better understand cardiogenesis and to better assess the risk of disease. Access to this whole-genome sequence data will facilitate our work.

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LINE-1 Retrotransposon Expression McKerrow

Platforms - AnVIL + CRDC

This interoperability project aims to find a path to connect the GTEx data on the AnVIL platform to further processing and also combination with a prior analysis on the CRDC. This "normals" use case is a frequent request from our users, so finding a solution would be extremely valuable for a large number of cancer researchers.

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Genetic Factors Related to Congenital Heart Defects Manning

Platforms - NHGRI AnVIL + Kids First DRC + NHLBI BioData Catalyst

In this project we investigate genetic factors related to congenital heart defects in a study design that uses healthy controls from two NHLBI cohorts and perform pooled analysis on AnVIL powered by Terra.

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Sex as a Biological Variable Wilson

Platforms - WGS from AnVIL, BDCat, CRDC, and GMKF

Assess the effects of using a standard reference alignment compared to a sex chromosome complement alignment on estimates of X-inactivation. In doing this, we will estimate the costs of realigning the DNA, RNA and calling allele specific expression in the proposed data.

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