SNP Selection Criteria
Category 1 "verified"
This contains all SNPs for which we have allele frequency or genotyping data. This includes SNPs from the TSC allele frequency project, as well as SNPs characterized by JSNP. These SNPs were generated from those rs clusters in which at least one of the SNPs in the cluster contains genotype or allele frequency data and the minor allele must have been seen in at least two individuals.
Category 2 "two-hit"
These are true double-hit SNPs, produced in collaboration with Jim Mullikin and Sarah Hunt. A double-hit SNP must be seen twice, in two different DNA samples which must have produced two alleles. TSC trace data was only allowed to contribute one hit per allele because the individual source DNA for a trace could not be identified.
Category 3 "jsnp-verified/perlegen-verified"
This category contains two groups: SNPs that JSNP certifies are likely to be real based on manual inspection of their data (but have not been genotyped)， and SNPs that Perlegen verified independently.
Category 4 "bac-overlap"
These are SNPs from BAC overlaps that do not fall into category 1 or 2 above.
Hapmap里有关SNP Selection Criteria,不甚明白,有高手帮着翻译一下.作者: xiaoxiaoniao 时间: 2016-1-7 11:11
SNP Selection Criteria
Category 1 "verified"
This contains all SNPs for which we have allele frequency or genotyping data. This includes SNPs from the TSC allele frequency project, as well as SNPs characterized by JSNP. These SNPs were generated from those rs clusters in which at least one of the SNPs in the cluster contains genotype or allele frequency data and the minor allele must have been seen in at least two individuals.
Category 2 "two-hit"
These are true double-hit SNPs, produced in collaboration with Jim Mullikin and Sarah Hunt. A double-hit SNP must be seen twice, in two different DNA samples which must have produced two alleles. TSC trace data was only allowed to contribute one hit per allele because the individual source DNA for a trace could not be identified.
Category 3 "jsnp-verified/perlegen-verified"
This category contains two groups: SNPs that JSNP certifies are likely to be real based on manual inspection of their data (but have not been genotyped)， and SNPs that Perlegen verified independently.
Category 4 "bac-overlap"
These are SNPs from BAC overlaps that do not fall into category 1 or 2 above.
Hapmap里有关SNP Selection Criteria,不甚明白,有高手帮着翻译一下.作者: qqq111 时间: 2016-1-7 11:15
1.Technophiles seek genomic imperfections with the Greek gods at Atlantis
Hamish S Scott
... this simple, sensitive and cost-efficient niche for detection of new sequence variants is high-resolution melting, presented by Jason McKinney (Idaho Technology, USA) and Michael Hoffmann (Roche ... McKinney (Idaho Technology, USA) and Michael Hoffmann (Roche Applied Science, Germany). High-resolution melting analysis relies on Idaho Technology's proprietary DNA binding dye called LCGreen, which ...
Nature Genetics 37, 1019-1021 (30 September 2005) doi:10.1038/ng1005-1019 Meeting Report
2.mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
Mitsuhiro Kato, Takeshi Mizuguchi, Keisuke Hamada, Hitoshi Osaka, Jun Tohyama, Katsuhisa Uruno, Satoko Kumada, Kiyomi Nishiyama, Akira Nishimura, Ippei Okada, et al.
... and subsequent high-resolution melt analysis were performed in 12-μl mixture on RoterGene-6200 HRM (Corbett Life Science). For exons 2 to 20, the PCR mixture contained 1 ...
Nature Genetics 40, 782-788 (11 May 2008) doi:10.1038/ng.150 Letter
没下到这两篇的全文，其它的文章很多，目前是高通量检测大样本人群和几个或者几十个SNP位点相关性的最佳选择。作者: ns5fan 时间: 2016-1-7 11:17
