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:
Platforms - NHLBI BioData Catalyst + Kids First DRC
In this research, we intend to study the genetic bases of congenital heart defects using a 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.
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 find
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.
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.