期刊
BMC GENOMICS
卷 15, 期 -, 页码 -出版社
BMC
DOI: 10.1186/1471-2164-15-S4-S10
关键词
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资金
- BBSRC
- Biotechnology and Biological Sciences Research Council [BBS/E/T/000PR5885, BBS/E/T/000PR6193, BB/I023798/1] Funding Source: researchfish
- BBSRC [BBS/E/T/000PR5885, BB/I024174/1, BB/I023798/1, BBS/E/T/000PR6193] Funding Source: UKRI
Reference-free SNP detection, that is identifying SNPs between samples directly from comparison of primary sequencing data with other primary sequencing data and not to a pre-assembled reference genome is an emergent and potentially disruptive technology that is beginning to open up new vistas in variant identification that reveals new applications in non-model organisms and metagenomics. The modern, effcient data structures these tools use enables researchers with a reference sequence to sample many more individuals with lower computing storage and processing overhead. In this article we will discuss the technologies and tools implementing reference-free SNP detection and the potential impact on studies of genetic variation in model and non-model organisms, metagenomics and personal genomics and medicine.
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