Direct selection of human genomic loci by microarray hybridization
Abstract
We applied high-density microarrays to the enrichment of specific sequences from the human genome for high-throughput sequencing. After capture of 6,726 approximately 500-base 'exon' segments, and of 'locus-specific' regions ranging in size from 200 kb to 5 Mb, followed by sequencing on a 454 Life Sciences FLX sequencer, most sequence reads represented selection targets. These direct selection methods supersede multiplex PCR for the large-scale analysis of genomic regions.
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Highly parallel methods to capture hundreds of thousands of exons, and other targets of interest, are under development.
“Highly parallel methods to capture hundreds of thousands of exons, and other targets of interest, are under development (139).”
From Genetic Mapping in Human Disease (2008) · cites this paper as [139]
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Massively parallel exon capture and library-free resequencing across 16 genomes
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Next Generation Sequencing of Ancient DNA: Requirements, Strategies and Perspectives
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Natural epigenetic variation in plant species: a view from the field
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Performance comparison of four exome capture systems for deep sequencing
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Self-citationFrom human genome to cancer genome: The first decadePreprint
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Self-citationA glimpse into past, present, and future DNA sequencing
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Challenges of sequencing human genomes
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- Authors
- Albert, T. J., Molla, M. N., Muzny, D. M., Nazareth, L., Wheeler, D., Song, X., Richmond, T. A., Middle, C. M., Rodesch, M. J., Packard, C. J., Weinstock, G. M., & Gibbs, R. A.
- Corresponding author
- Albert, Thomas J
- Gibbs, Richard A
- Venue
- Nature Methods
- Published
- 2007-10-14
- Volume
- 4
- Issue
- 11
- Pages
- 903-905
- ISSN
- 1548-7091 (ISSN-L)
- 1548-7105
- OpenAlex
- W1969596239
- Cited by
- 681
- References
- 8
- Citations by year
- 2026: 6 · 2025: 10 · 2024: 33 · 2023: 11 · 2022: 15 · 2021: 15 · 2020: 11 · 2019: 21 · 2018: 26 · 2017: 20 · 2016: 26 · 2015: 31 · 2014: 41 · 2013: 50 · 2012: 63
- FWCI
- 29.97
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Methods (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Human Genome Research Institute (R21HG004553, U54HG003273)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Gene expression and cancer classification
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- microarray hybridization, high-density microarrays, exon capture, next-generation sequencing, 454 pyrosequencing, human genome
- MeSH terms
- Humans, Nucleic Acid Hybridization, Oligodeoxyribonucleotides, Gene Library, Genome, Human, Polymerase Chain Reaction, Sequence Analysis, DNA, BRCA1 Protein, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Cell Line, Tumor
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