Multiplex amplification of large sets of human exons

Genome sequencing in microfabricated high-density picolitre reactors

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A census of human cancer genes

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The Consensus Coding Sequences of Human Breast and Colorectal Cancers

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Patterns of somatic mutation in human cancer genomes

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Genome-Wide Mapping of in Vivo Protein-DNA Interactions

Johnson, D. S., Mortazavi, A., Myers, R. M., & Wold, B. (2007) · Science · doi:10.1126/science.1141319 · Cited by 2,927

Accurate Multiplex Polony Sequencing of an Evolved Bacterial Genome

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Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9

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Clinical and molecular genetic spectrum of congenital deficiency of the leptin receptor.

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Direct selection of human genomic loci by microarray hybridization

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Multiplex polymerase chain reaction: A practical approach

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Multiplexed genotyping with sequence-tagged molecular inversion probes

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Advanced sequencing technologies: methods and goals

Shendure, J., Mitra, R. D., Varma, C., & Church, G. M. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1325 · Cited by 558

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL

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Multiplex PCR: advantages, development, and applications.

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Accurate multiplex gene synthesis from programmable DNA microchips

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Microarray-based genomic selection for high-throughput resequencing

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Highly multiplexed molecular inversion probe genotyping: Over 10,000 targeted SNPs genotyped in a single tube assay

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Polony Multiplex Analysis of Gene Expression (PMAGE) in Mouse Hypertrophic Cardiomyopathy

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Mapping the Cancer Genome

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Mapping the cancer genome. Pinpointing the genes involved in cancer will help chart a new course across the complex landscape of human malignancies.

Collins, F. S., & Barker, A. D. (2007) · PubMed · Cited by 176

Multigene amplification and massively parallel sequencing for cancer mutation discovery

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Automating sequence-based detection and genotyping of SNPs from diploid samples

Stephens, M., Sloan, J. S., Robertson, P. D., Scheet, P. A., & Nickerson, D. A. (2006) · Nature Genetics · doi:10.1038/ng1746 · Cited by 145

Multiplex amplification enabled by selective circularization of large sets of genomic DNA fragments

Dahl, F., Gullberg, M., Stenberg, J., Landegren, U., & Nilsson, M. (2005) · Nucleic Acids Research · doi:10.1093/nar/gni070 · Cited by 141

Direct genomic selection

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Multiplex amplification of all coding sequences within 10 cancer genes by Gene-Collector

Fredriksson, S., Banér, J., Dahl, F., Chu, A. M., Ji, H. P., Welch, K. M., & Davis, R. W. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm078 · Cited by 66

The resequencing imperative

Topol, E. J., & Frazer, K. A. (2007) · Nature Genetics · doi:10.1038/ng0407-439 · Cited by 50

Sequencing technologies – the next generation

Metzker, M. L. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2626 · Cited by 7,066

Next-generation DNA sequencing

Shendure, J., & Ji, H. (2008) · Nature Biotechnology · doi:10.1038/nbt1486 · Cited by 4,509

Accurate whole human genome sequencing using reversible terminator chemistry

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Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

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Somatic coding mutations in human induced pluripotent stem cells

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