Single nucleotide polymorphism genotyping: biochemistry, protocol, cost and throughput. The Pharmacogenomics Journal 3, 77–96, with permission and Sobrino, B., Brión, M., Carracedo, A., 2005. SNPs in forensic
single nucleotide polymorphism (SNP)genotypinghigh‐throughputInfinium assaygenome‐wide association study (GWAS)fine‐mappingfocused microarraysThe genotyping of single nucleotide polymorphisms (SNPs) has successfully contributed to the study of complex diseases more than any other technology to date. Genome-...
SNP，single nucleotidepolymorphism，即单核苷酸多态性。是指基因组DNA序列中由于单个核苷酸（A、T、C和G）的突变而引起的多态性。SNP广泛存在于人类基因组，其中发生频率约为1%或更高。包括单个碱基的转换、颠换、插入和缺失等，但通常所说 的SNP并不包括后两种情况。（转换是指C-T，在其互补链上则为G-...
We hypothesized that single-nucleotide polymorphism (SNP) array genotyping could provide superior resolution in comparison to karyotyping to facilitate rapid diagnosis and genotype–phenotype correlations in TS. Here, we present the first systematic comparison between the two methods and pro- vide ...
Wiszniewska J, et al. Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing. Eur J Hum Genet. 2013; 22(1):79–87. Google Scholar Bruno DL, et al. Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in ...
MIG-seq provides a quick (3 days), simple (two PCR steps) and economical (15 US dollars per sample) approach for SNP genotyping that is applicable to a wide range of DNA qualities and quantities from a wide variety of species. We expect that MIG-seq will become the technique of choice...
(2013) Single nucleotide polymorphism genotyping using BeadChip microarrays. Curr. Protoc. Hum. Genet., Chapter 2, Unit 2 9.Lambert, G. et al. (2013) Single nucleotide polymorphism genotyping using BeadChip microarrays, Current protocols in human genetics / editorial board, Jonathan L. Haines .....
We conducted additional genotyping to clarify the role of the OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white populations. Fifty-eight synonymous and nonsynonymous exonic single-nucleotide polymorphisms (SNPs) and tagging SNPs were ...
单核苷酸多态性(single nucleotide polymorphism,snp),主要是指在基因组水平上由单个核苷酸的变异所引起的dna序列多态性。它是人类可遗传的变异中最常见的一种。占所有已知多态性的90%以上。snp在人类基因组中广泛存在,平均每500～1000个碱基对中就有1个,估计其总数可达300万个甚至更多。 snp所表现的多态性只涉及到...
Wang J, Lin M, Crenshaw A et al. High-throughput single nucleotide polymorphism genotyping using nanofluidic dynamic arrays.BMC Genomics2009;10: 561. ArticlePubMedPubMed CentralGoogle Scholar Fluidigm.Fluidigm SNP Genotyping User Guide Rev H1, PN 68000098. South San Francisco, CA: Fluidigm Corporat...