SNPing in the human genome

Current Opinion in Chemical Biology

Volumn 5, Issue 1, 2001, Pages 78-85

  Carlson, Christopher S ^a   Newman, Tera L ^a   Nickerson, Deborah A ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA SEQUENCE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MEDICAL GENETICS; NUCLEOTIDE SEQUENCE; PHENOTYPE; REVIEW;

EID: 0035252960     PISSN: 13675931     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1367-5931(00)00171-X     Document Type: Review

References (65)

1. Positional cloning moves from perditional to traditional
2. Searching for genetic determinants in the new millennium
3. Prospects for whole-genome linkage disequilibrium mapping of common disease genes
4. Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28
5. The genetically isolated populations of Finland and Sardinia may not be a panacea for linkage disequilibrium mapping of common disease genes
6. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus
7. Localization of a small genomic region associated with elevated ACE
8. Increasing the information content of STS-based genome maps: Identifying polymorphisms in mapped STSs
9. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome
10. Sequence diversity in 36 candidate genes for cardiovascular disorders
11. Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis
12. Overlapping genomic sequences: A treasure trove of single-nucleotide polymorphisms
13. Mining SNPs from EST databases
14. A general approach to single-nucleotide polymorphism discovery
15. Identification of candidate coding region single nucleotide polymorphisms in 165 human genes using assembled expressed sequence tags
16. Reliable identification of large numbers of candidate SNPs from public EST data
17. Base-calling of automated sequencer traces using Phred. I. Accuracy assessment
18. Base-calling of automated sequencer traces using Phred. II. Error probabilities
19. Expression-based genetic/physical maps of single-nucleotide polymorphisms identified by the cancer genome anatomy project
20. Single nucleotide polymorphism hunting in cyberspace
21. Genome-wide analysis of single-nucleotide polymorphisms in human expressed sequences
22. Single-nucleotide polymorphisms can cause different structural folds of mRNA
23. An SNP map of the human genome generated by reduced representation shotgun sequencing
24. Characterization of single-nucleotide polymorphisms in coding regions of human genes
25. Comparative analysis of human DNA variations by fluorescence-based sequencing of PCR products
26. PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
27. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: Analysis of the human mitochondrial genome
28. Accessing genetic information with high-density DNA arrays
29. Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two-colour fluorescence analysis
30. Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography
31. Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes
32. Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations
33. Screening for mutations by enzyme mismatch cleavage with T4 endonuclease VII
34. Detection of mutations in human genes by a new rapid method: Cleavage fragment length polymorphism analysis (CFLPA)
35. Position and degree of mismatches and the mobility of DNA heteroduplexes
36. Construction of a genetic linkage map in man using restriction fragment length polymorphisms
37. Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes
38. Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes
39. Multiplex detection of single-nucleotide variations using molecular beacons
40. Genetic bit analysis: A solid phase method for typing single nucleotide polymorphisms
41. From gels to chips: 'Minisequencing' primer extension for analysis of point mutations and single nucleotide polymorphisms
42. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
43. A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria
44. Multiplexed single nucleotide polymorphism genotyping by oligonucleotide ligation and flow cytometry
45. Homogeneous genotyping assays for single nucleotide polymorphisms with fluorescence resonance energy transfer detection
46. Polymorphism identification and quantitative detection of genomic DNA by invasive cleavage of oligonucleotide probes
47. Allelic discrimination using fluorogenic probes and the 5′ nuclease assay
48. Fluorescence-based DNA minisequence analysis for detection of known single-base changes in genomic DNA
49. High-density multiplex detection of nucleic acid sequences: Oligonucleotide ligation assay and sequence-coded separation
50. Multiple fluorescence-based PCR-SSCP analysis
51. Single-tube genotyping without oligonucleotide probes
52. High-throughput SNP allele-frequency determination in pooled DNA samples by kinetic PCR
53. A homogeneous, ligase-mediated DNA diagnostic test
54. Multiplex, fluorescent, solid-phase minisequencing for efficient screening of DNA sequence variation
55. Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays
56. SBE-TAGS: An array-based method for efficient single-nucleotide polymorphism genotyping
57. A microsphere-based assay for multiplexed single nucleotide polymorphism analysis using single base chain extension
58. Flow cytometry-based minisequencing: A new platform for high-throughput single-nucleotide polymorphism scoring
59. Application of the luminex LabMAP in rapid screening for mutations in the cystic fibrosis transmembrane conductance regulator gene: A pilot study
60. Association mapping of disease loci, by use of a pooled DNA genomic screen
61. The relative power of family-based and case-control designs for linkage disequilibrium studies of complex human diseases I. DNA pooling
62. Quantitative approach to single-nucleotide polymorphism analysis using MALDI-TOF mass spectrometry
63. Cheap, accurate and rapid allele frequency estimation of single nucleotide polymorphisms by primer extension and DHPLC in DNA pools
64. Precise estimation of allele frequencies of single-nucleotide polymorphisms by a quantitative SSCP analysis of pooled DNA
65. Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness