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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Abstract
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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