Accurate sequencing by hybridization for DNA diagnostics and individual genomics
- 1 January 1998
- journal article
- Published by Springer Nature in Nature Biotechnology
- Vol. 16 (1) , 54-58
- https://doi.org/10.1038/nbt0198-54
Abstract
Medical DNA diagnostics will increasingly rely on an accurate and inexpensive identification of mutations that affect the function of a gene. To validate diagnostic sequencing by hybridization (SBH), a number of p53 samples were analyzed with the complete set of 8192 noncomplementary 7-mer oligonucleotides. In four repeated, blind experiments we accurately sequenced 1.1 kb per each of 12 homozygote and heterozygote samples possessing base substitutions, insertions, and deletions. This SBH variant offers a high throughput platform to inexpensively sequence individual gene or pathogen genome samples within the clinical laboratory setting.Keywords
This publication has 11 references indexed in Scilit:
- Detection of heterozygous mutations in BRCA1 using high density oligonucleotide arrays and two–colour fluorescence analysisNature Genetics, 1996
- Improved Thermodynamic Parameters and Helix Initiation Factor to Predict Stability of DNA DuplexesNucleic Acids Research, 1996
- Accessing Genetic Information with High-Density DNA ArraysScience, 1996
- Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populationsHuman Molecular Genetics, 1996
- p53: puzzle and paradigm.Genes & Development, 1996
- A 31-mutation assay for cystic fibrosis testing in the clinical molecular diagnostics laboratoryHuman Mutation, 1995
- G-protein alpha o subunit: mutation of conserved cysteines identifies a subunitcontact surface and alters GDP affinity.Proceedings of the National Academy of Sciences, 1993
- DNA Sequence Determination by Hybridization: a Strategy for Efficient Large-Scale SequencingScience, 1993
- Sequencing of megabase plus DNA by hybridization: Theory of the methodGenomics, 1989
- Allele-Specific Hybridization Using Oligonucleotide Probes of Very High Specific Activity: Discrimination of the Human βA- and βS-Globin GenesDNA, 1984