Published in Nat Methods on October 14, 2007
Sequencing technologies - the next generation. Nat Rev Genet (2009) 40.57
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol (2009) 27.17
SNP detection for massively parallel whole-genome resequencing. Genome Res (2009) 15.96
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Evaluation of next generation sequencing platforms for population targeted sequencing studies. Genome Biol (2009) 9.59
Initial impact of the sequencing of the human genome. Nature (2011) 9.18
Target-enrichment strategies for next-generation sequencing. Nat Methods (2010) 8.78
Integrative analysis of the melanoma transcriptome. Genome Res (2010) 8.46
Identification of genetic variants using bar-coded multiplexed sequencing. Nat Methods (2008) 7.50
Genetic variation in an individual human exome. PLoS Genet (2008) 6.68
The genetics of quantitative traits: challenges and prospects. Nat Rev Genet (2009) 5.99
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Multiplex sequencing of plant chloroplast genomes using Solexa sequencing-by-synthesis technology. Nucleic Acids Res (2008) 5.00
Microdroplet-based PCR enrichment for large-scale targeted sequencing. Nat Biotechnol (2009) 4.80
Hybrid selection of discrete genomic intervals on custom-designed microarrays for massively parallel sequencing. Nat Protoc (2009) 4.45
Whole exome capture in solution with 3 Gbp of data. Genome Biol (2010) 4.23
Finding the fifth base: genome-wide sequencing of cytosine methylation. Genome Res (2009) 4.16
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res (2008) 3.76
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet (2010) 3.52
Exome sequencing: the sweet spot before whole genomes. Hum Mol Genet (2010) 3.50
A comprehensive assay for targeted multiplex amplification of human DNA sequences. Proc Natl Acad Sci U S A (2008) 3.48
Accurate SNP and mutation detection by targeted custom microarray-based genomic enrichment of short-fragment sequencing libraries. Nucleic Acids Res (2010) 3.23
Applications of next generation sequencing in molecular ecology of non-model organisms. Heredity (Edinb) (2010) 3.22
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol (2011) 3.09
High definition profiling of mammalian DNA methylation by array capture and single molecule bisulfite sequencing. Genome Res (2009) 3.08
Targeted capture and next-generation sequencing identifies C9orf75, encoding taperin, as the mutated gene in nonsyndromic deafness DFNB79. Am J Hum Genet (2010) 2.95
Accurate detection and genotyping of SNPs utilizing population sequencing data. Genome Res (2010) 2.84
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
Exome sequencing of a multigenerational human pedigree. PLoS One (2009) 2.48
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
Computational and statistical approaches to analyzing variants identified by exome sequencing. Genome Biol (2011) 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
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
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
Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing. BMC Genomics (2009) 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
Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. Hugo J (2010) 1.50
Fluorescence in situ hybridization with high-complexity repeat-free oligonucleotide probes generated by massively parallel synthesis. Chromosome Res (2011) 1.46
Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hear Res (2012) 1.43
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
Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing. Nat Protoc (2011) 1.36
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
Combining microarray-based genomic selection (MGS) with the Illumina Genome Analyzer platform to sequence diploid target regions. Ann Hum Genet (2009) 1.32
SNP markers and their impact on plant breeding. Int J Plant Genomics (2012) 1.32
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
Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery. PLoS One (2011) 1.21
High-throughput SNP genotyping in the highly heterozygous genome of Eucalyptus: assay success, polymorphism and transferability across species. BMC Plant Biol (2011) 1.20
Mapping of the disease locus and identification of ADAMTS10 as a candidate gene in a canine model of primary open angle glaucoma. PLoS Genet (2011) 1.19
Targeted next-generation sequencing of DNA regions proximal to a conserved GXGXXG signaling motif enables systematic discovery of tyrosine kinase fusions in cancer. Nucleic Acids Res (2010) 1.17
Improved generation of rat gene knockouts by target-selected mutagenesis in mismatch repair-deficient animals. BMC Genomics (2008) 1.14
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia. Blood (2013) 1.13
Identification of the bovine Arachnomelia mutation by massively parallel sequencing implicates sulfite oxidase (SUOX) in bone development. PLoS Genet (2010) 1.13
Mutation discovery in the mouse using genetically guided array capture and resequencing. Mamm Genome (2009) 1.13
Gene capture coupled to high-throughput sequencing as a strategy for targeted metagenome exploration. DNA Res (2013) 1.12
Targeted enrichment of specific regions in the human genome by array hybridization. Curr Protoc Hum Genet (2010) 1.11
Identification of factors required for meristem function in Arabidopsis using a novel next generation sequencing fast forward genetics approach. BMC Genomics (2011) 1.10
Microtubule actin crosslinking factor 1 regulates the Balbiani body and animal-vegetal polarity of the zebrafish oocyte. PLoS Genet (2010) 1.08
Targeted sequencing of the human X chromosome exome. Genomics (2011) 1.06
A reduced representation approach to population genetic analyses and applications to human evolution. Genome Res (2011) 1.05
Genomic insights into adaptation to high-altitude environments. Heredity (Edinb) (2011) 1.05
High-throughput sequencing of microdissected chromosomal regions. Eur J Hum Genet (2009) 1.04
Targeted capture in evolutionary and ecological genomics. Mol Ecol (2015) 1.01
Strong position-dependent effects of sequence mismatches on signal ratios measured using long oligonucleotide microarrays. BMC Genomics (2008) 1.00
The use of museum specimens with high-throughput DNA sequencers. J Hum Evol (2014) 0.99
Poaceae genomes: going from unattainable to becoming a model clade for comparative plant genomics. Plant Physiol (2008) 0.97
Performance comparison of SNP detection tools with illumina exome sequencing data--an assessment using both family pedigree information and sample-matched SNP array data. Nucleic Acids Res (2014) 0.97
Statistical mutation calling from sequenced overlapping DNA pools in TILLING experiments. BMC Bioinformatics (2011) 0.97
Analyzing the cancer methylome through targeted bisulfite sequencing. Cancer Lett (2012) 0.96
Genetics of neurodegenerative diseases: insights from high-throughput resequencing. Hum Mol Genet (2010) 0.96
Human genetics and genomics a decade after the release of the draft sequence of the human genome. Hum Genomics (2011) 0.95
DNA Methylation Analysis: Choosing the Right Method. Biology (Basel) (2016) 0.95
Enhanced virome sequencing using targeted sequence capture. Genome Res (2015) 0.94
Controlling oligonucleotide surface density in light-directed DNA array fabrication. Langmuir (2009) 0.94
Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy. J Mol Diagn (2012) 0.94
Not All Next Generation Sequencing Diagnostics are Created Equal: Understanding the Nuances of Solid Tumor Assay Design for Somatic Mutation Detection. Cancers (Basel) (2015) 0.94
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One (2010) 0.93
Consequences of normalizing transcriptomic and genomic libraries of plant genomes using a duplex-specific nuclease and tetramethylammonium chloride. PLoS One (2013) 0.93
Genome wide SNP discovery in flax through next generation sequencing of reduced representation libraries. BMC Genomics (2012) 0.93
Next-generation sequencing in genetic hearing loss. Genet Test Mol Biomarkers (2013) 0.93
Next generation haplotyping to decipher nuclear genomic interspecific admixture in Citrus species: analysis of chromosome 2. BMC Genet (2014) 0.93
Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis. Genome Biol (2011) 0.92
Somatic alterations contributing to metastasis of a castration-resistant prostate cancer. Hum Mutat (2013) 0.92
Multiplex target capture with double-stranded DNA probes. Genome Med (2013) 0.91
An evaluation of different target enrichment methods in pooled sequencing designs for complex disease association studies. PLoS One (2011) 0.91
Disperse--a software system for design of selector probes for exon resequencing applications. Bioinformatics (2009) 0.90
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Genome-wide in situ exon capture for selective resequencing. Nat Genet (2007) 19.97
A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet (2005) 18.98
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Haplotype inference in random population samples. Am J Hum Genet (2002) 8.07
Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nat Genet (2004) 5.78
Systematic comparison of three genomic enrichment methods for massively parallel DNA sequencing. Genome Res (2010) 5.76
Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30
A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet (2008) 5.28
A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature (2005) 4.92
Gene expression analysis using oligonucleotide arrays produced by maskless photolithography. Genome Res (2002) 4.69
Comparative genome sequencing of Escherichia coli allows observation of bacterial evolution on a laboratory timescale. Nat Genet (2006) 4.44
Whole exome capture in solution with 3 Gbp of data. Genome Biol (2010) 4.23
Identification of a nitroimidazo-oxazine-specific protein involved in PA-824 resistance in Mycobacterium tuberculosis. Proc Natl Acad Sci U S A (2005) 3.97
Genomic alterations in cultured human embryonic stem cells. Nat Genet (2005) 3.89
Structure and complexity of a bacterial transcriptome. J Bacteriol (2009) 3.55
Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing. Hum Mol Genet (2010) 3.50
The next-generation sequencing revolution and its impact on genomics. Cell (2013) 3.35
Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities. Genome Biol (2011) 3.09
Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. Am J Hum Genet (2003) 2.51
Tracking the evolution of the SARS coronavirus using high-throughput, high-density resequencing arrays. Genome Res (2004) 2.47
Microdeletions of 3q29 confer high risk for schizophrenia. Am J Hum Genet (2010) 2.38
SNP-specific array-based allele-specific expression analysis. Genome Res (2008) 2.30
Probing genomic diversity and evolution of Escherichia coli O157 by single nucleotide polymorphisms. Genome Res (2006) 1.87
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet (2003) 1.87
Discrepancies in dbSNP confirmation rates and allele frequency distributions from varying genotyping error rates and patterns. Bioinformatics (2004) 1.72
Relative contribution of genetic and nongenetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology (2006) 1.71
Haplotype and missing data inference in nuclear families. Genome Res (2004) 1.69
Genomic characterization of the Yersinia genus. Genome Biol (2010) 1.63
Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays. Genome Biol (2008) 1.61
Microarray-based resequencing of multiple Bacillus anthracis isolates. Genome Biol (2004) 1.61
Directed evolution of ionizing radiation resistance in Escherichia coli. J Bacteriol (2009) 1.60
Population bottlenecks as a potential major shaping force of human genome architecture. PLoS Genet (2007) 1.47
The composition and origins of genomic variation among individuals of the soybean reference cultivar Williams 82. Plant Physiol (2010) 1.42
An oligonucleotide microarray for high-throughput sequencing of the mitochondrial genome. J Mol Diagn (2006) 1.40
Microarray-based mutation detection in the dystrophin gene. Hum Mutat (2008) 1.39
SeqAnt: a web service to rapidly identify and annotate DNA sequence variations. 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
Repeat subtraction-mediated sequence capture from a complex genome. Plant J (2010) 1.31
Aberrant gating of photic input to the suprachiasmatic circadian pacemaker of mice lacking the VPAC2 receptor. J Neurosci (2004) 1.30
Complete genome sequence of Treponema pallidum ssp. pallidum strain SS14 determined with oligonucleotide arrays. BMC Microbiol (2008) 1.29
Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies. Am J Hum Genet (2007) 1.23
The UBX-regulated network in the haltere imaginal disc of D. melanogaster. Dev Biol (2006) 1.21
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J Clin Invest (2011) 1.19
Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males. Am J Med Genet A (2010) 1.16
Interrogating genomic diversity of E. coli O157:H7 using DNA tiling arrays. Forensic Sci Int (2006) 1.14
Mutation discovery in the mouse using genetically guided array capture and resequencing. Mamm Genome (2009) 1.13
Interaction between a novel TGFB1 haplotype and CFTR genotype is associated with improved lung function in cystic fibrosis. Hum Mol Genet (2008) 1.12
Autosomal recessive causes likely in early-onset Alzheimer disease. Arch Neurol (2011) 1.08
Extending reference assembly models. Genome Biol (2015) 1.06
Targeted sequencing of the human X chromosome exome. Genomics (2011) 1.06
A genome sequencing center in every lab. Eur J Hum Genet (2005) 1.05
Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus. Am J Hum Genet (2012) 1.02
On the probability that a novel variant is a disease-causing mutation. Genome Res (2005) 1.02
What is a suitable dissolution method for drug nanoparticles? Pharm Res (2008) 1.01
A comprehensive resequence analysis of the KLK15-KLK3-KLK2 locus on chromosome 19q13.33. Hum Genet (2009) 1.01
Rapid identification of genetic modifications in Bacillus anthracis using whole genome draft sequences generated by 454 pyrosequencing. PLoS One (2010) 0.99
Copy number abnormalities in sporadic canine colorectal cancers. Genome Res (2010) 0.95
Pharmacokinetic parameter prediction from drug structure using artificial neural networks. Int J Pharm (2004) 0.95
Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One (2010) 0.93
Susceptibility to childhood-onset rheumatoid arthritis: investigation of a weighted genetic risk score that integrates cumulative effects of variants at five genetic loci. Arthritis Rheum (2013) 0.93
Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase. Hum Mol Genet (2009) 0.92
Exome sequencing identifies a novel FOXP3 mutation in a 2-generation family with inflammatory bowel disease. J Pediatr Gastroenterol Nutr (2014) 0.92
The heritability of amyotrophic lateral sclerosis in a clinically ascertained United States research registry. PLoS One (2011) 0.91
Mometasone furoate degradation and metabolism in human biological fluids and tissues. Biopharm Drug Dispos (2003) 0.90
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. J Med Genet (2012) 0.90
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet (2012) 0.90
Fine mapping the KLK3 locus on chromosome 19q13.33 associated with prostate cancer susceptibility and PSA levels. Hum Genet (2011) 0.90
Multiplex Chromosomal Exome Sequencing Accelerates Identification of ENU-Induced Mutations in the Mouse. G3 (Bethesda) (2012) 0.88
Population genetics identifies challenges in analyzing rare variants. Genet Epidemiol (2015) 0.87
Population demographic history can cause the appearance of recombination hotspots. Am J Hum Genet (2012) 0.87
Empirical evaluation of oligonucleotide probe selection for DNA microarrays. PLoS One (2010) 0.84
Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder. Hum Mol Genet (2012) 0.83
Genistein cooperates with the histone deacetylase inhibitor vorinostat to induce cell death in prostate cancer cells. BMC Cancer (2012) 0.82
Microarray oligonucleotide probe designer (MOPeD): A web service. Open Access Bioinformatics (2010) 0.81
Variation in the lymphotoxin-alpha/tumor necrosis factor locus modifies risk of erythema nodosum in sarcoidosis. J Invest Dermatol (2009) 0.80
Applying rapid genome sequencing technologies to characterize pathogen genomes. Anal Chem (2008) 0.80
Evaluating rare variants in complex disorders using next-generation sequencing. Curr Psychiatry Rep (2013) 0.80
Simultaneous neutron scattering and Raman scattering. Appl Spectrosc (2009) 0.80
A model of binding on DNA microarrays: understanding the combined effect of probe synthesis failure, cross-hybridization, DNA fragmentation and other experimental details of affymetrix arrays. BMC Genomics (2012) 0.79
Common NOD2 risk variants in African Americans with Crohn's disease are due exclusively to recent Caucasian admixture. Inflamm Bowel Dis (2012) 0.79
Association study of serotonin pathway genes in attempted suicide. Am J Med Genet B Neuropsychiatr Genet (2011) 0.79
Paraoxonase-1 polymorphisms in Alzheimer's disease, Parkinson's disease, and AD-PD spectrum diseases. Neurobiol Aging (2010) 0.79