Published in Nucleic Acids Res on July 01, 2009
A statistical approach for detecting genomic aberrations in heterogeneous tumor samples from single nucleotide polymorphism genotyping data. Genome Biol (2010) 2.72
Integrative analysis of genome-wide loss of heterozygosity and monoallelic expression at nucleotide resolution reveals disrupted pathways in triple-negative breast cancer. Genome Res (2012) 1.95
Copy neutral loss of heterozygosity: a novel chromosomal lesion in myeloid malignancies. Blood (2010) 1.62
Copy number variation of individual cattle genomes using next-generation sequencing. Genome Res (2012) 1.62
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Genomic characteristics of cattle copy number variations. BMC Genomics (2011) 1.48
Evolving approaches to the ethical management of genomic data. Trends Genet (2013) 1.18
PTMScan direct: identification and quantification of peptides from critical signaling proteins by immunoaffinity enrichment coupled with LC-MS/MS. Mol Cell Proteomics (2012) 1.18
Genomic aberrations in lung adenocarcinoma in never smokers. PLoS One (2010) 1.17
Pyrene-functionalized oligonucleotides and locked nucleic acids (LNAs): tools for fundamental research, diagnostics, and nanotechnology. Chem Soc Rev (2011) 1.04
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Single nucleotide polymorphism microarray analysis in cortisol-secreting adrenocortical adenomas identifies new candidate genes and pathways. Neoplasia (2012) 0.92
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. PLoS Genet (2014) 0.91
Modelling decisions to undergo genetic testing for susceptibility to common health conditions: an ancillary study of the Multiplex Initiative. Psychol Health (2011) 0.90
Investigation of Human Cancers for Retrovirus by Low-Stringency Target Enrichment and High-Throughput Sequencing. Sci Rep (2015) 0.89
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations. Am J Hum Genet (2013) 0.88
Single nucleotide polymorphism array profiling of adrenocortical tumors--evidence for an adenoma carcinoma sequence? PLoS One (2013) 0.88
Frequent amplification of CENPF, GMNN and CDK13 genes in hepatocellular carcinomas. PLoS One (2012) 0.86
Interpreting genomic data via entropic dissection. Nucleic Acids Res (2012) 0.85
Detection of recurrent copy number alterations in the genome: taking among-subject heterogeneity seriously. BMC Bioinformatics (2009) 0.85
Genome-wide patterns of copy number variation in the diversified chicken genomes using next-generation sequencing. BMC Genomics (2014) 0.85
Next generation DNA sequencing and the future of genomic medicine. Genes (Basel) (2010) 0.84
A review of software for microarray genotyping. Hum Genomics (2011) 0.83
Genomic DNA enrichment using sequence capture microarrays: a novel approach to discover sequence nucleotide polymorphisms (SNP) in Brassica napus L. PLoS One (2013) 0.82
Genome-wide association studies in preterm birth: implications for the practicing obstetrician-gynaecologist. BMC Pregnancy Childbirth (2013) 0.82
SNP Array in Hematopoietic Neoplasms: A Review. Microarrays (Basel) (2015) 0.82
The nephrologist of tomorrow: towards a kidney-omic future. Pediatr Nephrol (2016) 0.81
Genetics in schizophrenia: where are we and what next? Dialogues Clin Neurosci (2010) 0.81
SNPs Array Karyotyping in Non-Hodgkin Lymphoma. Microarrays (Basel) (2015) 0.81
Mass spectrometry (LC-MS/MS) identified proteomic biosignatures of breast cancer in proximal fluid. J Proteome Res (2012) 0.81
Integrative radiation systems biology. Radiat Oncol (2014) 0.81
Association between genetic subgroups of pancreatic ductal adenocarcinoma defined by high density 500 K SNP-arrays and tumor histopathology. PLoS One (2011) 0.81
Enhancing systems medicine beyond genotype data by dynamic patient signatures: having information and using it too. Front Genet (2013) 0.80
ALG: automated genotype calling of Luminex assays. PLoS One (2011) 0.80
Copy number variations among silkworms. BMC Genomics (2014) 0.80
Photolithographic Synthesis of High-Density DNA and RNA Arrays on Flexible, Transparent, and Easily Subdivided Plastic Substrates. Anal Chem (2015) 0.80
Genome Wide Sampling Sequencing for SNP Genotyping: Methods, Challenges and Future Development. Int J Biol Sci (2016) 0.79
From integrative genomics to systems genetics in the rat to link genotypes to phenotypes. Dis Model Mech (2016) 0.79
Comparative Analysis of CNV Calling Algorithms: Literature Survey and a Case Study Using Bovine High-Density SNP Data. Microarrays (Basel) (2013) 0.79
Deleted copy number variation of Hanwoo and Holstein using next generation sequencing at the population level. BMC Genomics (2014) 0.78
Family-Based Benchmarking of Copy Number Variation Detection Software. PLoS One (2015) 0.78
Molecular genetic studies of complete hydatidiform moles. Transl Pediatr (2015) 0.77
Genetic Susceptibility to Rhodococcus equi. J Vet Intern Med (2015) 0.77
Microarray experiments and factors which affect their reliability. Biol Direct (2015) 0.77
Steroid-induced ocular hypertension/glaucoma: Focus on pharmacogenomics and implications for precision medicine. Prog Retin Eye Res (2016) 0.77
Losing balance: Hardy-Weinberg disequilibrium as a marker for recurrent loss-of-heterozygosity in cancer. Hum Mol Genet (2011) 0.77
Genetics of Tinnitus: Still in its Infancy. Front Neurosci (2017) 0.77
Multi-omics approaches to disease. Genome Biol (2017) 0.76
A novel method of microsatellite genotyping-by-sequencing using individual combinatorial barcoding. R Soc Open Sci (2016) 0.76
Development of a RAD-Seq Based DNA Polymorphism Identification Software, AgroMarker Finder, and Its Application in Rice Marker-Assisted Breeding. PLoS One (2016) 0.76
Advantages of Array-Based Technologies for Pre-Emptive Pharmacogenomics Testing. Microarrays (Basel) (2016) 0.76
Homozygosity mapping and sequencing identify two genes that might contribute to pointing behavior in hunting dogs. Canine Genet Epidemiol (2015) 0.75
Use of single nucleotide polymorphism array technology to improve the identification of chromosomal lesions in leukemia. Curr Cancer Drug Targets (2013) 0.75
A Mismatch EndoNuclease Array-Based Methodology (MENA) for Identifying Known SNPs or Novel Point Mutations. Microarrays (Basel) (2016) 0.75
Multipyrene tandem probes for point mutations detection in DNA. J Nucleic Acids (2013) 0.75
Alternate-locus aware variant calling in whole genome sequencing. Genome Med (2016) 0.75
CNV discovery for milk composition traits in dairy cattle using whole genome resequencing. BMC Genomics (2017) 0.75
Re-evaluating data quality of dog mitochondrial, Y chromosomal, and autosomal SNPs genotyped by SNP array. Zool Res (2016) 0.75
First all-in-one diagnostic tool for DNA intelligence: genome-wide inference of biogeographic ancestry, appearance, relatedness, and sex with the Identitas v1 Forensic Chip. Int J Legal Med (2012) 0.75
Transcriptomic SNP discovery for custom genotyping arrays: impacts of sequence data, SNP calling method and genotyping technology on the probability of validation success. BMC Res Notes (2016) 0.75
MPAgenomics: an R package for multi-patient analysis of genomic markers. BMC Bioinformatics (2014) 0.75
Optimal Design of Low-Density SNP Arrays for Genomic Prediction: Algorithm and Applications. PLoS One (2016) 0.75
Using GWAS to identify novel therapeutic targets for osteoporosis. Transl Res (2016) 0.75
Targeted next-generation sequencing at copy-number breakpoints for personalized analysis of rearranged ends in solid tumors. PLoS One (2014) 0.75
Screening for SNPs with Allele-Specific Methylation based on Next-Generation Sequencing Data. Stat Biosci (2013) 0.75
Comparison of the efficiency of colorectal cancer screening programs based on age and genetic risk for reduction of colorectal cancer mortality. Eur J Hum Genet (2017) 0.75
Long term storage in liquid nitrogen leads to only minor phenotypic and gene expression changes in the mammary carcinoma model cell line BT474. Oncotarget (2017) 0.75
Inference of population structure using multilocus genotype data. Genetics (2000) 147.76
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature (2007) 144.95
Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet (2006) 115.71
A haplotype map of the human genome. Nature (2005) 105.70
A comparison of normalization methods for high density oligonucleotide array data based on variance and bias. Bioinformatics (2003) 82.89
Model-based analysis of oligonucleotide arrays: expression index computation and outlier detection. Proc Natl Acad Sci U S A (2001) 68.44
A new statistical method for haplotype reconstruction from population data. Am J Hum Genet (2001) 59.30
Global variation in copy number in the human genome. Nature (2006) 57.50
Detection of large-scale variation in the human genome. Nat Genet (2004) 49.18
The diploid genome sequence of an Asian individual. Nature (2008) 46.29
The diploid genome sequence of an individual human. PLoS Biol (2007) 44.80
Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
Normalization for cDNA microarray data: a robust composite method addressing single and multiple slide systematic variation. Nucleic Acids Res (2002) 40.03
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
Next-generation DNA sequencing. Nat Biotechnol (2008) 34.95
Large-scale copy number polymorphism in the human genome. Science (2004) 34.64
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Strong association of de novo copy number mutations with autism. Science (2007) 27.84
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Structural variation in the human genome. Nat Rev Genet (2006) 21.40
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res (2007) 19.07
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science (1998) 18.23
A high-resolution survey of deletion polymorphism in the human genome. Nat Genet (2005) 16.99
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet (2006) 14.76
Genome-wide association studies: theoretical and practical concerns. Nat Rev Genet (2005) 14.30
A faster circular binary segmentation algorithm for the analysis of array CGH data. Bioinformatics (2007) 14.25
High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods (2008) 12.56
A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res (2005) 11.02
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res (2006) 10.45
A genotype calling algorithm for affymetrix SNP arrays. Bioinformatics (2005) 10.43
QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data. Nucleic Acids Res (2007) 10.08
Large-scale genotyping of complex DNA. Nat Biotechnol (2003) 10.00
An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res (2004) 8.86
SNP discovery and allele frequency estimation by deep sequencing of reduced representation libraries. Nat Methods (2008) 8.26
Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet (2007) 8.07
Discerning the ancestry of European Americans in genetic association studies. PLoS Genet (2007) 7.81
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet (2005) 7.66
A genome-wide scalable SNP genotyping assay using microarray technology. Nat Genet (2005) 7.64
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Widespread monoallelic expression on human autosomes. Science (2007) 7.12
Homozygous deletions and chromosome amplifications in human lung carcinomas revealed by single nucleotide polymorphism array analysis. Cancer Res (2005) 6.93
Copy-number variations associated with neuropsychiatric conditions. Nature (2008) 6.78
dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data. Bioinformatics (2004) 6.78
Whole-genome genotyping with the single-base extension assay. Nat Methods (2006) 6.66
Comparative analysis of algorithms for identifying amplifications and deletions in array CGH data. Bioinformatics (2005) 6.44
Genome-wide detection of human copy number variations using high-density DNA oligonucleotide arrays. Genome Res (2006) 5.97
Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res (2004) 5.59
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A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon. Am J Hum Genet (2006) 5.10
Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of affymetrix single-nucleotide-polymorphism genotyping microarrays. Am J Hum Genet (2007) 4.52
Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays. Nat Biotechnol (2000) 4.10
Inferring loss-of-heterozygosity from unpaired tumors using high-density oligonucleotide SNP arrays. PLoS Comput Biol (2006) 3.39
Allele-specific amplification in cancer revealed by SNP array analysis. PLoS Comput Biol (2005) 2.84
PLASQ: a generalized linear model-based procedure to determine allelic dosage in cancer cells from SNP array data. Biostatistics (2006) 2.82
Algorithms for large-scale genotyping microarrays. Bioinformatics (2003) 2.66
Genotyping pooled DNA on microarrays: a systematic genome screen of thousands of SNPs in large samples to detect QTLs for complex traits. Behav Genet (2004) 2.14
Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation. Genome Res (2008) 2.03
SNP arrays in heterogeneous tissue: highly accurate collection of both germline and somatic genetic information from unpaired single tumor samples. Am J Hum Genet (2008) 2.00
Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet (2008) 1.90
Algorithms for inferring haplotypes. Genet Epidemiol (2004) 1.89
Whole genome scanning as a cytogenetic tool in hematologic malignancies. Blood (2008) 1.78
Allelic dosage analysis with genotyping microarrays. Biochem Biophys Res Commun (2005) 1.78
Major copy proportion analysis of tumor samples using SNP arrays. BMC Bioinformatics (2008) 1.62
Toward accurate high-throughput SNP genotyping in the presence of inherited copy number variation. BMC Genomics (2007) 1.54
SNP panel identification assay (SPIA): a genetic-based assay for the identification of cell lines. Nucleic Acids Res (2008) 1.51
Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat (2008) 1.49
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Some dubious premises in research and theory on racial differences. Scientific, social, and ethical issues. Am Psychol (1990) 1.13
Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes. BMC Genet (2008) 0.96
MOCSphaser: a haplotype inference tool from a mixture of copy number variation and single nucleotide polymorphism data. Bioinformatics (2008) 0.95
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