NCPI Interoperability Demonstration Projects

The following demonstration projects are under development and will be updated with details on methods and results as they become available:

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. Read more...

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. Read more...

Genetic Bases of 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. Read more ...

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. Read more...