The NHGRI Centers for Common Disease Genomics (CCDG) program is producing tens of thousands of whole genome (WGS) and whole exome (WES) sequencing datasets as part of multiple disease-focused studies. CCDG projects involve data produced at multiple centers and rely on the use of shared controls. It is therefore imperative to the success of CCDG disease projects that groups work together to produce genome variation maps that include data from different centers and projects. The variant ?callsets? resulting from this effort will be crucial to the broader goals of the NHGRI Genome Sequencing Program (GSP). In this context, the efficient and timely generation of variant calls from aggregated genomic data is a top priority. Working towards this goal has been the primary activity of the GSP Data Analysis Working Group to date. Here, we propose to conduct a collaborative variant calling effort towards the generation of CCDG Freeze2.
It is imperative to the success of CCDG disease projects that groups work together to produce genome variation maps that include data from different centers and projects. The variant ?callsets? resulting from this effort will be crucial to the broader goals of the NHGRI Genome Sequencing Program (GSP). In this context, the efficient and timely generation of variant calls from aggregated genomic data is a top priority and we propose to conduct a collaborative variant calling effort towards the generation of CCDG Freeze2.
| Lin, Chien-Jung; Lin, Chieh-Yu; Stitziel, Nathan O (2018) Genetics of the extracellular matrix in aortic aneurysmal diseases. Matrix Biol 71-72:128-143 |
| Regier, Allison A; Farjoun, Yossi; Larson, David E et al. (2018) Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat Commun 9:4038 |
| Chiang, Colby; Scott, Alexandra J; Davis, Joe R et al. (2017) The impact of structural variation on human gene expression. Nat Genet 49:692-699 |
| Stitziel, Nathan O; Khera, Amit V; Wang, Xiao et al. (2017) ANGPTL3 Deficiency and Protection Against Coronary Artery Disease. J Am Coll Cardiol 69:2054-2063 |
| Stitziel, Nathan O (2017) Human genetic insights into lipoproteins and risk of cardiometabolic disease. Curr Opin Lipidol 28:113-119 |
| Auer, Paul L; Stitziel, Nathan O (2017) Genetic association studies in cardiovascular diseases: Do we have enough power? Trends Cardiovasc Med 27:397-404 |
| Ganel, Liron; Abel, Haley J; FinMetSeq Consortium et al. (2017) SVScore: an impact prediction tool for structural variation. Bioinformatics 33:1083-1085 |
