Evaluating genome architecture of a complex region via generalized bipartite matching
With the remarkable development in inexpensive sequencing technologies and supporting computational tools, we have the promise of medicine being personalized by knowledge of the individual genome. Current technologies provide high throughput, but short reads. Reconstruction of the donor genome is ba...
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| Format: | Online |
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BioMed Central
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3622632/ |
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pubmed-36226322013-04-15 Evaluating genome architecture of a complex region via generalized bipartite matching Lo, Christine Kim, Sangwoo Zakov, Shay Bafna, Vineet Proceedings With the remarkable development in inexpensive sequencing technologies and supporting computational tools, we have the promise of medicine being personalized by knowledge of the individual genome. Current technologies provide high throughput, but short reads. Reconstruction of the donor genome is based either on de novo assembly of the (short) reads, or on mapping donor reads to a standard reference. While such techniques demonstrate high success rates for inferring 'simple' genomic segments, they are confounded by segments with complex duplication patterns, including regions of direct medical relevance, like the HLA and the KIR regions. BioMed Central 2013-04-10 /pmc/articles/PMC3622632/ /pubmed/23734567 http://dx.doi.org/10.1186/1471-2105-14-S5-S13 Text en Copyright © 2013 Lo et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| repository_type |
Open Access Journal |
| institution_category |
Foreign Institution |
| institution |
US National Center for Biotechnology Information |
| building |
NCBI PubMed |
| collection |
Online Access |
| language |
English |
| format |
Online |
| author |
Lo, Christine Kim, Sangwoo Zakov, Shay Bafna, Vineet |
| spellingShingle |
Lo, Christine Kim, Sangwoo Zakov, Shay Bafna, Vineet Evaluating genome architecture of a complex region via generalized bipartite matching |
| author_facet |
Lo, Christine Kim, Sangwoo Zakov, Shay Bafna, Vineet |
| author_sort |
Lo, Christine |
| title |
Evaluating genome architecture of a complex region via generalized bipartite matching |
| title_short |
Evaluating genome architecture of a complex region via generalized bipartite matching |
| title_full |
Evaluating genome architecture of a complex region via generalized bipartite matching |
| title_fullStr |
Evaluating genome architecture of a complex region via generalized bipartite matching |
| title_full_unstemmed |
Evaluating genome architecture of a complex region via generalized bipartite matching |
| title_sort |
evaluating genome architecture of a complex region via generalized bipartite matching |
| description |
With the remarkable development in inexpensive sequencing technologies and supporting computational tools, we have the promise of medicine being personalized by knowledge of the individual genome. Current technologies provide high throughput, but short reads. Reconstruction of the donor genome is based either on de novo assembly of the (short) reads, or on mapping donor reads to a standard reference. While such techniques demonstrate high success rates for inferring 'simple' genomic segments, they are confounded by segments with complex duplication patterns, including regions of direct medical relevance, like the HLA and the KIR regions. |
| publisher |
BioMed Central |
| publishDate |
2013 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3622632/ |
| _version_ |
1611969299699728384 |