BioGraph™ Format: What Is It?

A high level explanation of the BioGraph Format and how it is created.

Introduction to the BioGraph™ Format

How the BioGraph Format meets the current challenges faced by NGS sequencing.

BioGraph™ Format: Applications and Validation

Validation of the BioGraph Format and a presentation of several use cases.

Spiral Assembly Suite

Accurate small, medium, and large structural variation detection with short read sequencing.

Results of Validation Anchored Assembly: Results from Validation Testing

Summary of validation results on simulated and real data.  (16 pages; last updated March 6, 2015)

Qadir, M.A., Zhan, S.H., Kwok, B., Bruestle, J., Drees, B., Popescu, O-E., and Sorensen P.H. (2014). ChildSeq-RNA: A Next-Generation Sequencing-Based Diagnostic Assay to Identify Known Fusion Transcripts in Childhood Sarcomas. J Mol Diagn 16, 361-70.

English, A.C., Salerno, W.J., Hampton, O.A., Gonzaga-Jauregui, C., Ambreth, S., Ritter, D., Beck, C.R., Davis, C., Dahdouli, M., Ma, S., Carroll, A., Veeraraghavan, N., Bruestle, J., Drees, B., White, S., Mishra, P., Zhang, F., Fu, Y., Stankiewicz, P., Wheeler, D.A., Reid, J.G., Muzny, D.M., Rogers, J., Sabo, A., Worley, K., Boerwinkle, E., Lupski, J.R., and Gibbs, R.A. (2015). Assessing structural variation in a personal genome-towards a human reference diploid genome. BMC Genomics 16, 286.

 

 

Salerno, W.J., English, A.C., Shekar, S.N., Bruestle, Mangubat, A., Gibbs, R.A.  Rapid and scalable typing of structural variants with assembly-based indexing, Manuscript in preparation.

Drees, B., Malig M., Shekar, S.N., Bruestle J., Eichler, E.E., Read overlap assembly detects novel structural variants in whole human genome sequence data, manuscript in preparation.

Genome in a Bottle Consortium manuscript on structural variants, manuscript in preparation.