Publications

Figure from publication.

Genetic effects on gene expression across human tissues.

By: Biospecimen Collection Source Site—NDRI., Biospecimen Collection Source Site—RPCI., Biospecimen Core Resource—VARI., Brain Bank Repository—University of Miami Brain Endowment Bank., Leidos Biomedical—Project Management., ELSI Study., Genome Browser Data Integration &Visualization—EBI., Genome Browser Data Integration &Visualization—UCSC Genomics Institute, University of California Santa Cruz et al. Abstract Characterization …

Bioinformatics Cover.

A graph-based approach to diploid genome assembly

By: Shilpa Garg, Mikko Rautiainen, Adam M Novak, Erik Garrison, Richard Durbin, Tobias Marschall Abstract Motivation Constructing high-quality haplotype-resolved de novo assemblies of diploid genomes is important for revealing the full extent of structural variation and its role in health and disease. Current assembly approaches often collapse …

Superbubbles, Ultrabubbles, and Cacti.

By: Benedict Paten, Jordan M. Eizenga, Yohei M. Rosen, Adam M. Novak, Erik Garrison, and Glenn Hickey Abstract A superbubble is a type of directed acyclic subgraph with single distinct source and sink vertices. In genome assembly and genetics, the possible paths through a superbubble can …

Journal of Computational Biology Cover

A Flow Procedure for Linearization of Genome Sequence Graphs

By: David Haussler, Maciej Smuga-Otto, Jordan M. Eizenga, Benedict Paten, Adam M. Novak, Sergei Nikitin, Maria Zueva, and Dmitrii Miagkov Abstract Efforts to incorporate human genetic variation into the reference human genome have converged on the idea of a graph representation of genetic variation within …

Mapping DNA methylation with high-throughput nanopore sequencing

DNA chemical modifications regulate genomic function. We present a framework for mapping cytosine and adenosine methylation with the Oxford Nanopore Technologies MinION using this nanopore sequencer’s ionic current signal. We map three cytosine variants and two adenine variants. The results show that our model is …