期刊
GENOME BIOLOGY
卷 10, 期 2, 页码 -出版社
BMC
DOI: 10.1186/gb-2009-10-2-r23
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资金
- NCRR NIH HHS [S10 RR019895, RR19895-02] Funding Source: Medline
- NATIONAL CENTER FOR RESEARCH RESOURCES [S10RR019895] Funding Source: NIH RePORTER
Personal-genomics endeavors, such as the 1000 Genomes project, are generating maps of genomic structural variants by analyzing ends of massively sequenced genome fragments. To process these we developed Paired-End Mapper (PEMer; http://sv.gersteinlab.org/pemer). This comprises an analysis pipeline, compatible with several next-generation sequencing platforms; simulation-based error models, yielding confidence-values for each structural variant; and a back-end database. The simulations demonstrated high structural variant reconstruction efficiency for PEMer's coverage-adjusted multi-cutoff scoring-strategy and showed its relative insensitivity to base-calling errors.
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