Published in Nat Methods on October 14, 2007
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Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol (2009) 27.17
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Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotechnol (2009) 4.80
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Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet (2010) 3.52
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Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing. Hum Mol Genet (2010) 3.50
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High definition profiling of mammalian DNA methylation by array capture and single molecule bisulfite sequencing. Genome Res (2009) 3.08
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Cost-effective, high-throughput DNA sequencing libraries for multiplexed target capture. Genome Res (2012) 2.91
The challenges of sequencing by synthesis. Nat Biotechnol (2009) 2.89
Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol (2011) 2.78
Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection. Nat Methods (2009) 2.71
Enrichment of super-sized resequencing targets from the human genome. Nat Methods (2007) 2.68
Targeted next-generation sequencing of a cancer transcriptome enhances detection of sequence variants and novel fusion transcripts. Genome Biol (2009) 2.65
A probabilistic approach for SNP discovery in high-throughput human resequencing data. Genome Res (2009) 2.55
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture. Nat Genet (2010) 2.44
Challenges of sequencing human genomes. Brief Bioinform (2010) 2.39
Multiplex padlock targeted sequencing reveals human hypermutable CpG variations. Genome Res (2009) 2.38
Enrichment of sequencing targets from the human genome by solution hybridization. Genome Biol (2009) 2.32
Keeping up with the next generation: massively parallel sequencing in clinical diagnostics. J Mol Diagn (2008) 2.24
Targeted high throughput sequencing in clinical cancer settings: formaldehyde fixed-paraffin embedded (FFPE) tumor tissues, input amount and tumor heterogeneity. BMC Med Genomics (2011) 2.24
Nuclear aggregation of olfactory receptor genes governs their monogenic expression. Cell (2012) 2.20
Rfx6 directs islet formation and insulin production in mice and humans. Nature (2010) 2.15
Haplotype sorting using human fosmid clone end-sequence pairs. Genome Res (2008) 2.10
Design of association studies with pooled or un-pooled next-generation sequencing data. Genet Epidemiol (2010) 2.06
The GENCODE exome: sequencing the complete human exome. Eur J Hum Genet (2011) 1.88
A comparative analysis of exome capture. Genome Biol (2011) 1.78
Direct multiplex sequencing (DMPS)--a novel method for targeted high-throughput sequencing of ancient and highly degraded DNA. Genome Res (2009) 1.69
Massively parallel sequencing of the mouse exome to accurately identify rare, induced mutations: an immediate source for thousands of new mouse models. Open Biol (2012) 1.65
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest Ophthalmol Vis Sci (2011) 1.63
Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus. BMC Genet (2009) 1.63
Targeted enrichment of genomic DNA regions for next-generation sequencing. Brief Funct Genomics (2011) 1.63
Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa. Adv Exp Med Biol (2010) 1.58
Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing. BMC Genomics (2009) 1.55
Genetic causes of high and low serum HDL-cholesterol. J Lipid Res (2010) 1.55
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia (2012) 1.55
Nested Patch PCR enables highly multiplexed mutation discovery in candidate genes. Genome Res (2008) 1.55
Microarray-based multicycle-enrichment of genomic subsets for targeted next-generation sequencing. Genome Res (2009) 1.55
Targeted analysis of nucleotide and copy number variation by exon capture in allotetraploid wheat genome. Genome Biol (2011) 1.54
Efficient targeted resequencing of human germline and cancer genomes by oligonucleotide-selective sequencing. Nat Biotechnol (2011) 1.52
Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel. PLoS One (2013) 1.51
High-density SNP-based genetic map development and linkage disequilibrium assessment in Brassica napus L. BMC Genomics (2013) 1.51
Performance comparison of four exome capture systems for deep sequencing. BMC Genomics (2014) 1.51
SNP frequency estimation using massively parallel sequencing of pooled DNA. Eur J Hum Genet (2008) 1.51
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J (2010) 1.50
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am J Hum Genet (2010) 1.48
Fluorescence in situ hybridization with high-complexity repeat-free oligonucleotide probes generated by massively parallel synthesis. Chromosome Res (2011) 1.46
New strategies and emerging technologies for massively parallel sequencing: applications in medical research. Genome Med (2009) 1.45
Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res (2012) 1.43
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Next generation sequence analysis for mitochondrial disorders. Genome Med (2009) 1.42
Genetic and structural variation in the gastric cancer kinome revealed through targeted deep sequencing. Cancer Res (2010) 1.41
High-quality DNA sequence capture of 524 disease candidate genes. Proc Natl Acad Sci U S A (2011) 1.41
Deafness in the genomics era. Hear Res (2011) 1.37
Targeted resequencing of candidate genes using selector probes. Nucleic Acids Res (2010) 1.37
Mutations and quantitative genetic variation: lessons from Drosophila. Philos Trans R Soc Lond B Biol Sci (2010) 1.36
SeqAnt: a web service to rapidly identify and annotate DNA sequence variations. BMC Bioinformatics (2010) 1.36
Calling SNPs without a reference sequence. BMC Bioinformatics (2010) 1.36
Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions. Ann Hum Genet (2009) 1.32
Expanding whole exome resequencing into non-human primates. Genome Biol (2011) 1.27
Rapid identification of heterozygous mutations in Drosophila melanogaster using genomic capture sequencing. Genome Res (2010) 1.26
A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach. Genet Test Mol Biomarkers (2012) 1.26
Multiplex target enrichment using DNA indexing for ultra-high throughput SNP detection. DNA Res (2010) 1.24
Next Generation Sequencing of Ancient DNA: Requirements, Strategies and Perspectives. Genes (Basel) (2010) 1.22
Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery. PLoS One (2011) 1.21
Next generation sequencing in research and diagnostics of ocular birth defects. Mol Genet Metab (2010) 1.21
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23. Am J Hum Genet (2009) 1.21
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res (2005) 44.08
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
A high-resolution map of active promoters in the human genome. Nature (2005) 24.35
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A (2002) 20.48
Genome-wide in situ exon capture for selective resequencing. Nat Genet (2007) 19.97
Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature (2010) 19.68
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Characterizing the cancer genome in lung adenocarcinoma. Nature (2007) 16.48
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics (2009) 16.04
Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med (2013) 15.85
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
Chromosome Conformation Capture Carbon Copy (5C): a massively parallel solution for mapping interactions between genomic elements. Genome Res (2006) 13.32
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science (2011) 11.12
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
SNPdetector: a software tool for sensitive and accurate SNP detection. PLoS Comput Biol (2005) 10.04
The Atlas genome assembly system. Genome Res (2004) 9.78
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res (2004) 9.18
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
A high-resolution map of human evolutionary constraint using 29 mammals. Nature (2011) 8.67
Genome-scale mapping of DNase I sensitivity in vivo using tiling DNA microarrays. Nat Methods (2006) 8.52
Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution. Genome Res (2005) 8.38
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature (2012) 8.31
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
A catalog of reference genomes from the human microbiome. Science (2010) 8.10
Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence. Genome Biol (2002) 8.07
The Drosophila melanogaster Genetic Reference Panel. Nature (2012) 7.94
Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds. Science (2009) 7.64
Minimum information about a marker gene sequence (MIMARKS) and minimum information about any (x) sequence (MIxS) specifications. Nat Biotechnol (2011) 7.53
Analysis of chromosome breakpoints in neuroblastoma at sub-kilobase resolution using fine-tiling oligonucleotide array CGH. Genes Chromosomes Cancer (2005) 7.53
Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A (2011) 7.36
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The DNA sequence of the human X chromosome. Nature (2005) 6.97
The genome of the model beetle and pest Tribolium castaneum. Nature (2008) 6.50
28-way vertebrate alignment and conservation track in the UCSC Genome Browser. Genome Res (2007) 6.42
The genome of the sea urchin Strongylocentrotus purpuratus. Science (2006) 6.41