Published in Bioinformatics on February 05, 2004
Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies. Hum Mutat (2010) 1.23
On the probability that a novel variant is a disease-causing mutation. Genome Res (2005) 1.02
Genetic determinants and ethnic disparities in sepsis-associated acute lung injury. Proc Am Thorac Soc (2005) 0.89
BlackOPs: increasing confidence in variant detection through mappability filtering. Nucleic Acids Res (2013) 0.85
A novel application of pattern recognition for accurate SNP and indel discovery from high-throughput data: targeted resequencing of the glucocorticoid receptor co-chaperone FKBP5 in a Caucasian population. Mol Genet Metab (2011) 0.83
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Computational approaches to study the effects of small genomic variations. J Mol Model (2015) 0.81
Exome sequencing for gene discovery: time does not stand still. Ann Neurol (2012) 0.80
Comment on 'Discrepancies in dbSNP confirmations rates and allele frequency distributions from varying genotyping error rates and patterns'. Bioinformatics (2004) 0.79
CYP1A2 polymorphism and theophylline clearance in Korean non-smoking asthmatics. Asia Pac Allergy (2013) 0.77
Impact of host genetic polymorphisms on vaccine induced antibody response. Hum Vaccin Immunother (2016) 0.75
Novel SNP markers in InvGE and SssI genes are associated with natural variation of sugar contents and frying color in Solanum tuberosum Group Phureja. BMC Genet (2017) 0.75
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
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
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet (2007) 14.99
Development of human protein reference database as an initial platform for approaching systems biology in humans. Genome Res (2003) 14.79
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genome-wide association study of blood pressure and hypertension. Nat Genet (2009) 11.54
Microarray-based genomic selection for high-throughput resequencing. Nat Methods (2007) 9.62
Haplotype inference in random population samples. Am J Hum Genet (2002) 8.07
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet (2006) 6.39
Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies. Nat Genet (2004) 5.78
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
A genome-wide linkage and association scan reveals novel loci for autism. Nature (2009) 4.76
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci U S A (2005) 4.64
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet (2009) 4.28
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet (2009) 4.10
Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet (2010) 3.97
Genomic alterations in cultured human embryonic stem cells. Nat Genet (2005) 3.89
Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet (2009) 3.80
Genome-wide association study of PR interval. Nat Genet (2010) 3.73
Meta-analysis identifies six new susceptibility loci for atrial fibrillation. Nat Genet (2012) 3.71
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Structure and complexity of a bacterial transcriptome. J Bacteriol (2009) 3.55
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
From the Cover: Whole-genome association study identifies STK39 as a hypertension susceptibility gene. Proc Natl Acad Sci U S A (2008) 3.39
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. PLoS Genet (2011) 3.07
Segregation at three loci explains familial and population risk in Hirschsprung disease. Nat Genet (2002) 3.07
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Human embryonic stem cells have a unique epigenetic signature. Genome Res (2006) 2.89
A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans. Am J Hypertens (2003) 2.76
Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease. Nat Genet (2002) 2.74
Sequence variations in the public human genome data reflect a bottlenecked population history. Proc Natl Acad Sci U S A (2002) 2.70
Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation (2009) 2.55
The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. Genome Res (2004) 2.54
Public stem cell banks: considerations of justice in stem cell research and therapy. Hastings Cent Rep (2004) 2.53
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
Multiple genes for essential-hypertension susceptibility on chromosome 1q. Am J Hum Genet (2006) 2.34
Differential susceptibility to hypertension is due to selection during the out-of-Africa expansion. PLoS Genet (2005) 2.33
Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order Amish. Hum Hered (2007) 2.26
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability. Am J Hum Genet (2010) 2.12
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Diabetes (2011) 2.09
A BDNF coding variant is associated with the NEO personality inventory domain neuroticism, a risk factor for depression. Neuropsychopharmacology (2002) 2.07
Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. PLoS Genet (2010) 1.91
Identifying allelic loss and homozygous deletions in pancreatic cancer without matched normals using high-density single-nucleotide polymorphism arrays. Cancer Res (2006) 1.89
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
Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study. Hum Mol Genet (2011) 1.77
A multilevel model to address batch effects in copy number estimation using SNP arrays. Biostatistics (2010) 1.76
Polymorphisms in the NOS1AP gene modulate QT interval duration and risk of arrhythmias in the long QT syndrome. J Am Coll Cardiol (2010) 1.73
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
Multiple loci are associated with white blood cell phenotypes. PLoS Genet (2011) 1.65
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
Association of hypertension drug target genes with blood pressure and hypertension in 86,588 individuals. Hypertension (2011) 1.60
Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained. PLoS Genet (2013) 1.57
Genome-wide association analysis of blood-pressure traits in African-ancestry individuals reveals common associated genes in African and non-African populations. Am J Hum Genet (2013) 1.55
Combined admixture mapping and association analysis identifies a novel blood pressure genetic locus on 5p13: contributions from the CARe consortium. Hum Mol Genet (2011) 1.54
Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer. Hum Mol Genet (2005) 1.48
Population bottlenecks as a potential major shaping force of human genome architecture. PLoS Genet (2007) 1.47
Replication of the Wellcome Trust genome-wide association study of essential hypertension: the Family Blood Pressure Program. Eur J Hum Genet (2008) 1.45
Genomics in sudden cardiac death. Circ Res (2004) 1.42
Drug-sensitized zebrafish screen identifies multiple genes, including GINS3, as regulators of myocardial repolarization. Circulation (2009) 1.41
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
Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals. PLoS Genet (2011) 1.38
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
Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb. Proc Natl Acad Sci U S A (2003) 1.30
Aberrant gating of photic input to the suprachiasmatic circadian pacemaker of mice lacking the VPAC2 receptor. J Neurosci (2004) 1.30
Loci influencing blood pressure identified using a cardiovascular gene-centric array. Hum Mol Genet (2013) 1.27
A genome-wide scan for obesity in African-Americans. Diabetes (2002) 1.25
Positional identification of hypertension susceptibility genes on chromosome 2. Hypertension (2004) 1.25
Mendelian disorders and multifactorial traits: the big divide or one for all? Nat Rev Genet (2010) 1.24
Estimating genome-wide copy number using allele-specific mixture models. J Comput Biol (2008) 1.23
Simultaneous discovery and testing of deletions for disease association in SNP genotyping studies. Am J Hum Genet (2007) 1.23
Positional identification of variants of Adamts16 linked to inherited hypertension. Hum Mol Genet (2009) 1.21