The 1000 genome paper provides a glimpse of new tools in progress. Check supplemental information. Main points to me are that they did not find any universal method to identify variations. They came to use the consensus of different methods to call SNPs and SV. People should really realize this rather than expecting informaticians to come up with perfect solutions. Too many people are underestimating this; even many people who work this field do not know this and do not know what they are talking about. “Can you just provide us reliable SNPs and CNVs? …” I need more than 2 weeks to find them out.
- The 1000 Genomes Project Consortium Nature 467, 1061-1073 (2010). | Article | OpenURL
- Sudmant, P. H. et al. Science 330, 641-646 (2010). | ChemPort |
- Supplementary Tables (413K)
- This file contains Supplementary Tables 1-13
- Supplementary Information (4.7M)
- This file contains Supplementary Text 1-16 (see contents list for details), additional references and Supplementary Figures 1-16 with legends and references. <=== (Very useful information)