Extending reference assembly models

Church, D. M., Schneider, V. A., Steinberg, K. M., Schatz, M. C., Quinlan, A. R., Chin, C. S., Kitts, P. A., Aken, B., Marth, G. T., Hoffman, M. M., Herrero, J., Mendoza, M. L. Z., Durbin, R., Flicek, P. (January 2015) Extending reference assembly models. Genome Biology, 16. Article no. 13. ISSN 1465-6906

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URL: http://www.ncbi.nlm.nih.gov/pubmed/25651527
DOI: 10.1186/s13059-015-0587-3


The human genome reference assembly is crucial for aligning and analyzing sequence data, and for genome annotation, among other roles. However, the models and analysis assumptions that underlie the current assembly need revising to fully represent human sequence diversity. Improved analysis tools and updated data reporting formats are also required.

Item Type: Paper
Subjects: bioinformatics
bioinformatics > genomics and proteomics > alignment > sequence alignment
bioinformatics > genomics and proteomics > annotation > sequence annotation
bioinformatics > genomics and proteomics > analysis and processing > Sequence Data Processing
bioinformatics > genomics and proteomics > analysis and processing > reference assembly
CSHL Authors:
Communities: CSHL Cancer Center Program > Cancer Genetics
Depositing User: Matt Covey
Date: 24 January 2015
Date Deposited: 24 Apr 2015 19:19
Last Modified: 13 Oct 2015 19:56
PMCID: PMC4305238
Related URLs:
URI: https://repository.cshl.edu/id/eprint/31354

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