Published in Bioinformatics on January 18, 2005
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature (2007) 144.95
A genotype calling algorithm for the Illumina BeadArray platform. Bioinformatics (2007) 8.03
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res (2006) 5.97
The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports. BMC Med Genet (2007) 5.02
Genome-wide association scans identified CTNNBL1 as a novel gene for obesity. Hum Mol Genet (2008) 3.24
Germ-line DNA copy number variation frequencies in a large North American population. Hum Genet (2007) 2.94
CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays. BMC Bioinformatics (2006) 2.82
Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis. Am J Hum Genet (2008) 2.65
High-resolution global genomic survey of 178 gliomas reveals novel regions of copy number alteration and allelic imbalances. Cancer Res (2006) 2.56
Genotyping pooled DNA using 100K SNP microarrays: a step towards genomewide association scans. Nucleic Acids Res (2006) 2.33
Assessing batch effects of genotype calling algorithm BRLMM for the Affymetrix GeneChip Human Mapping 500 K array set using 270 HapMap samples. BMC Bioinformatics (2008) 1.98
Genomic complexity identifies patients with aggressive chronic lymphocytic leukemia. Blood (2008) 1.93
Analysis of pooled DNA samples on high density arrays without prior knowledge of differential hybridization rates. Nucleic Acids Res (2006) 1.88
Hidden Markov models for the assessment of chromosomal alterations using high-throughput SNP arrays. Ann Appl Stat (2008) 1.75
Quantifying uncertainty in genotype calls. Bioinformatics (2009) 1.74
Singapore Genome Variation Project: a haplotype map of three Southeast Asian populations. Genome Res (2009) 1.73
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Am J Hum Genet (2008) 1.69
A Hidden Markov Model to estimate population mixture and allelic copy-numbers in cancers using Affymetrix SNP arrays. BMC Bioinformatics (2007) 1.65
Major copy proportion analysis of tumor samples using SNP arrays. BMC Bioinformatics (2008) 1.62
Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays. Genome Biol (2008) 1.61
Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation. BMC Genomics (2007) 1.54
Analysis and visualization of chromosomal abnormalities in SNP data with SNPscan. BMC Bioinformatics (2006) 1.50
PPC: an algorithm for accurate estimation of SNP allele frequencies in small equimolar pools of DNA using data from high density microarrays. Nucleic Acids Res (2005) 1.50
Fine-scaled human genetic structure revealed by SNP microarrays. Genome Res (2009) 1.48
Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis. PLoS Genet (2010) 1.41
Genome-wide association study suggested copy number variation may be associated with body mass index in the Chinese population. J Hum Genet (2009) 1.40
Mutations in LOXHD1, an evolutionarily conserved stereociliary protein, disrupt hair cell function in mice and cause progressive hearing loss in humans. Am J Hum Genet (2009) 1.37
Genotyping and annotation of Affymetrix SNP arrays. Nucleic Acids Res (2006) 1.31
Genome-wide association and replication studies identified TRHR as an important gene for lean body mass. Am J Hum Genet (2009) 1.28
Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males. PLoS One (2009) 1.26
The Framingham Heart Study, on its way to becoming the gold standard for Cardiovascular Genetic Epidemiology? BMC Med Genet (2007) 1.24
Genome-wide association analyses identify SPOCK as a key novel gene underlying age at menarche. PLoS Genet (2009) 1.21
Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study. PLoS One (2008) 1.21
Mutations in the first MyTH4 domain of MYO15A are a common cause of DFNB3 hearing loss. Laryngoscope (2009) 1.16
Pathway-based genome-wide association analysis identified the importance of regulation-of-autophagy pathway for ultradistal radius BMD. J Bone Miner Res (2010) 1.15
Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians. Osteoporos Int (2009) 1.13
Screening and replication using the same data set: testing strategies for family-based studies in which all probands are affected. PLoS Genet (2008) 1.12
Biological pathway-based genome-wide association analysis identified the vasoactive intestinal peptide (VIP) pathway important for obesity. Obesity (Silver Spring) (2010) 1.10
The signatures of autozygosity among patients with colorectal cancer. Cancer Res (2008) 1.10
Genome-wide association analyses suggested a novel mechanism for smoking behavior regulated by IL15. Mol Psychiatry (2009) 1.09
High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis. PLoS One (2009) 1.06
Whole genome distribution and ethnic differentiation of copy number variation in Caucasian and Asian populations. PLoS One (2009) 1.06
Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation. Hum Mol Genet (2008) 1.03
Microarray analysis of copy number variation in single cells. Nat Protoc (2012) 1.01
Assessing sources of inconsistencies in genotypes and their effects on genome-wide association studies with HapMap samples. Pharmacogenomics J (2010) 1.00
Polymorphisms in predicted miRNA binding sites and osteoporosis. J Bone Miner Res (2011) 1.00
Polymorphisms in IL-1beta, vitamin D receptor Fok1, and Toll-like receptor 2 are associated with extrapulmonary tuberculosis. BMC Med Genet (2010) 0.99
Performance of whole-genome amplified DNA isolated from serum and plasma on high-density single nucleotide polymorphism arrays. J Mol Diagn (2008) 0.98
Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations. Genome Res (2012) 0.98
Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes. BMC Genet (2008) 0.96
Missing call bias in high-throughput genotyping. BMC Genomics (2009) 0.94
SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations. Eur J Hum Genet (2012) 0.94
High fidelity of whole-genome amplified DNA on high-density single nucleotide polymorphism arrays. Genomics (2008) 0.93
Smarter clustering methods for SNP genotype calling. Bioinformatics (2008) 0.93
Genome-wide association study for femoral neck bone geometry. J Bone Miner Res (2010) 0.90
Pathway-based genome-wide association analysis identified the importance of EphrinA-EphR pathway for femoral neck bone geometry. Bone (2009) 0.90
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. Clin Genet (2010) 0.89
Genotyping and inflated type I error rate in genome-wide association case/control studies. BMC Bioinformatics (2009) 0.89
Performance assessment of copy number microarray platforms using a spike-in experiment. Bioinformatics (2011) 0.88
AccuTyping: new algorithms for automated analysis of data from high-throughput genotyping with oligonucleotide microarrays. Nucleic Acids Res (2006) 0.88
Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation. Neurogenetics (2012) 0.88
A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22. Neurogenetics (2010) 0.86
SNPExpress: integrated visualization of genome-wide genotypes, copy numbers and gene expression levels. BMC Genomics (2008) 0.85
Hybridization modeling of oligonucleotide SNP arrays for accurate DNA copy number estimation. Nucleic Acids Res (2009) 0.85
The role of genetic polymorphisms in antioxidant enzymes and potential antioxidant therapies in neonatal lung disease. Antioxid Redox Signal (2014) 0.84
Bayesian Gaussian Mixture Models for High-Density Genotyping Arrays. J Am Stat Assoc (2008) 0.84
Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening. Osteoporos Int (2009) 0.84
A review of software for microarray genotyping. Hum Genomics (2011) 0.83
A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family. Am J Med Genet A (2009) 0.82
Reproducibility of Genotypes as Measured by the Affymetrix GeneChip® 100K Human Mapping Array Set. Comput Stat Data Anal (2008) 0.81
Perturbation analysis: a simple method for filtering SNPs with erroneous genotyping in genome-wide association studies. Ann Hum Genet (2008) 0.81
The combined effect of SNP-marker and phenotype attributes in genome-wide association studies. Anim Genet (2008) 0.80
A new analysis tool for individual-level allele frequency for genomic studies. BMC Genomics (2010) 0.80
Mismatch and G-stack modulated probe signals on SNP microarrays. PLoS One (2009) 0.80
Concurrent whole-genome haplotyping and copy-number profiling of single cells. Am J Hum Genet (2015) 0.80
An imputation approach for oligonucleotide microarrays. PLoS One (2013) 0.79
R classes and methods for SNP array data. Methods Mol Biol (2010) 0.79
Genome-wide analysis of loss of heterozygosity and copy number amplification in uterine leiomyomas using the 100K single nucleotide polymorphism array. Exp Mol Pathol (2011) 0.78
Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. Am J Hum Genet (2008) 0.78
Dynamic variable selection in SNP genotype autocalling from APEX microarray data. BMC Bioinformatics (2006) 0.78
Pathway-based association analyses identified TRAIL pathway for osteoporotic fractures. PLoS One (2011) 0.78
CNAReporter: a GenePattern pipeline for the generation of clinical reports of genomic alterations. BMC Med Genomics (2010) 0.78
Modeling Informatively Missing Genotypes in Haplotype Analysis. Commun Stat Theory Methods (2009) 0.78
SAQC: SNP array quality control. BMC Bioinformatics (2011) 0.77
Investigation of parameters that affect the success rate of microarray-based allele-specific hybridization assays. PLoS One (2011) 0.75
Gene flow between the Korean peninsula and its neighboring countries. PLoS One (2010) 0.75
Detection of mutant NPM1 mRNA in acute myeloid leukemia using custom gene expression arrays. Genet Test Mol Biomarkers (2013) 0.75
A note on statistical method for genotype calling of high-throughput SNP arrays. J Appl Stat (2013) 0.75
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Global variation in copy number in the human genome. Nature (2006) 57.50
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
NetAffx: Affymetrix probesets and annotations. Nucleic Acids Res (2003) 14.37
A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res (2005) 11.02
Large-scale genotyping of complex DNA. Nat Biotechnol (2003) 10.00
Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat Methods (2004) 9.52
Genome sequence of Aedes aegypti, a major arbovirus vector. Science (2007) 9.19
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Novel RNAs identified from an in-depth analysis of the transcriptome of human chromosomes 21 and 22. Genome Res (2004) 8.35
Robust estimators for expression analysis. Bioinformatics (2002) 8.30
Diffusion-weighted magnetic resonance imaging as a cancer biomarker: consensus and recommendations. Neoplasia (2009) 7.44
Mapping human genetic diversity in Asia. Science (2009) 7.40
Preoperative diagnosis of benign thyroid nodules with indeterminate cytology. N Engl J Med (2012) 7.06
DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med (2014) 6.66
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res (2006) 5.97
Whole genome DNA copy number changes identified by high density oligonucleotide arrays. Hum Genomics (2004) 5.65
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res (2004) 5.59
High-resolution analysis of DNA copy number using oligonucleotide microarrays. Genome Res (2004) 5.24
Whole-genome scan, in a complex disease, using 11,245 single-nucleotide polymorphisms: comparison with microsatellites. Am J Hum Genet (2004) 4.76
Unusual intron conservation near tissue-regulated exons found by splicing microarrays. PLoS Comput Biol (2006) 4.63
SLAM: cross-species gene finding and alignment with a generalized pair hidden Markov model. Genome Res (2003) 4.17
Hypoxia: importance in tumor biology, noninvasive measurement by imaging, and value of its measurement in the management of cancer therapy. Int J Radiat Biol (2006) 3.98
A genomewide admixture mapping panel for Hispanic/Latino populations. Am J Hum Genet (2007) 3.85
Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation. Hum Genomics (2005) 3.77
A second-generation combined linkage physical map of the human genome. Genome Res (2007) 3.60
The genomic distribution of population substructure in four populations using 8,525 autosomal SNPs. Hum Genomics (2004) 3.53
Latino populations: a unique opportunity for the study of race, genetics, and social environment in epidemiological research. Am J Public Health (2005) 3.50
Probe selection for high-density oligonucleotide arrays. Proc Natl Acad Sci U S A (2003) 3.31
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. Am J Hum Genet (2006) 3.29
Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data. PLoS Genet (2010) 3.11
Description of the data from the Collaborative Study on the Genetics of Alcoholism (COGA) and single-nucleotide polymorphism genotyping for Genetic Analysis Workshop 14. BMC Genet (2005) 3.04
Gene structure-based splice variant deconvolution using a microarray platform. Bioinformatics (2003) 2.97
Genome-wide association study of esophageal squamous cell carcinoma in Chinese subjects identifies susceptibility loci at PLCE1 and C20orf54. Nat Genet (2010) 2.95
CARAT: a novel method for allelic detection of DNA copy number changes using high density oligonucleotide arrays. BMC Bioinformatics (2006) 2.82
Characterizing the genetic basis of transcriptome diversity through RNA-sequencing of 922 individuals. Genome Res (2013) 2.77
Recent genetic selection in the ancestral admixture of Puerto Ricans. Am J Hum Genet (2007) 2.72
Algorithms for large-scale genotyping microarrays. Bioinformatics (2003) 2.66
The histone H2B-specific ubiquitin ligase RNF20/hBRE1 acts as a putative tumor suppressor through selective regulation of gene expression. Genes Dev (2008) 2.48
A new infinite inorganic [n]catenane from silver and bis(2-methylimidazolyl)methane ligand. Chem Commun (Camb) (2006) 2.46
Target identification using drug affinity responsive target stability (DARTS). Proc Natl Acad Sci U S A (2009) 2.40
High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs. Am J Hum Genet (2005) 2.39
PET/NIRF/MRI triple functional iron oxide nanoparticles. Biomaterials (2010) 2.31
Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array. Genomics (2011) 2.31
Impact of cellular miRNAs on circulating miRNA biomarker signatures. PLoS One (2011) 2.24