Published in Eur J Hum Genet on May 01, 2005
Shifting paradigm of association studies: value of rare single-nucleotide polymorphisms. Am J Hum Genet (2008) 7.36
African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genomics Hum Genet (2008) 6.06
Genetic variation and population structure in native Americans. PLoS Genet (2007) 4.87
A genomewide admixture map for Latino populations. Am J Hum Genet (2007) 4.71
FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation. Hum Mol Genet (2009) 2.62
Worldwide population differentiation at disease-associated SNPs. BMC Med Genomics (2008) 2.32
Efficient selection of tagging single-nucleotide polymorphisms in multiple populations. Hum Genet (2006) 1.66
Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India. Ann Hum Genet (2007) 1.65
Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics (2006) 1.46
Replication study of SNP associations for colorectal cancer in Hong Kong Chinese. Br J Cancer (2010) 1.24
Is replication the gold standard for validating genome-wide association findings? PLoS One (2008) 1.18
Evaluating HapMap SNP data transferability in a large-scale genotyping project involving 175 cancer-associated genes. Hum Genet (2005) 1.13
Prospects and pitfalls in whole genome association studies. Philos Trans R Soc Lond B Biol Sci (2005) 1.09
Interpopulation linkage disequilibrium patterns of GABRA2 and GABRG1 genes at the GABA cluster locus on human chromosome 4. Genomics (2007) 0.97
Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene. Pharmacogenomics J (2008) 0.96
The effect of single-nucleotide polymorphism marker selection on patterns of haplotype blocks and haplotype frequency estimates. Am J Hum Genet (2005) 0.92
The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase. Mol Psychiatry (2008) 0.90
Efficacy assessment of SNP sets for genome-wide disease association studies. Nucleic Acids Res (2007) 0.90
A genome-wide association scan for asthma in a general Australian population. Hum Genet (2008) 0.85
SMAD7 variant rs4939827 is associated with colorectal cancer risk in Croatian population. PLoS One (2013) 0.84
Inter and intra ethnic variation of vitamin K epoxide reductase complex and cytochrome P450 4F2 genetic polymorphisms and their prevalence in South Indian population. Indian J Hum Genet (2013) 0.84
Decay of linkage disequilibrium within genes across HGDP-CEPH human samples: most population isolates do not show increased LD. BMC Genomics (2009) 0.84
An Equation to Predict the Accuracy of Genomic Values by Combining Data from Multiple Traits, Populations, or Environments. Genetics (2015) 0.84
The contribution of individual and pairwise combinations of SNPs in the APOA1 and APOC3 genes to interindividual HDL-C variability. J Mol Med (Berl) (2006) 0.83
iHAP--integrated haplotype analysis pipeline for characterizing the haplotype structure of genes. BMC Bioinformatics (2006) 0.81
Regional differences in cerebral perfusion associated with the alpha-2A-adrenergic receptor genotypes in attention deficit hyperactivity disorder. J Psychiatry Neurosci (2010) 0.81
SMAD7 loci contribute to risk of hepatocellular carcinoma and clinicopathologic development among Chinese Han population. Oncotarget (2016) 0.79
Using selection index theory to estimate consistency of multi-locus linkage disequilibrium across populations. BMC Genet (2015) 0.79
Efficient genome-wide TagSNP selection across populations via the linkage disequilibrium criterion. J Comput Biol (2010) 0.78
Are "functionally related polymorphisms" of renin-angiotensin-aldosterone system gene polymorphisms associated with hypertension? BMC Cardiovasc Disord (2010) 0.77
Population analysis of vitamin D receptor polymorphisms and the role of genetic ancestry in an admixed population. Genet Mol Biol (2011) 0.77
Association of 8q23-24 region (8q23.3 loci and 8q24.21 loci) with susceptibility to colorectal cancer: a systematic and updated meta-analysis. Int J Clin Exp Med (2015) 0.76
TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population. J Biomed Sci (2009) 0.76
Polymorphism of SMAD7 gene (rs2337104) and risk of colorectal cancer in an Iranian population: a case-control study. Gastroenterol Hepatol Bed Bench (2014) 0.76
Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese. Oncotarget (2016) 0.75
Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders. BMC Genomics (2013) 0.75
Pure and Confounded Effects of Causal SNPs on Longevity: Insights for Proper Interpretation of Research Findings in GWAS of Populations with Different Genetic Structures. Front Genet (2016) 0.75
Influence of ethnicity on the distribution of genetic polymorphisms associated with risk of chronic liver disease in South American populations. BMC Genet (2015) 0.75
Multi-population Genomic Relationships for Estimating Current Genetic Variances Within and Genetic Correlations Between Populations. Genetics (2017) 0.75
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 individual human. PLoS Biol (2007) 44.80
Genetic structure of human populations. Science (2002) 30.91
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet (2008) 15.51
A human genome diversity cell line panel. Science (2002) 14.11
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet (2010) 13.70
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
Prepublication data sharing. Nature (2009) 12.24
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Integrative annotation of 21,037 human genes validated by full-length cDNA clones. PLoS Biol (2004) 7.17
Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma. Nat Genet (2012) 7.00
Genome assembly comparison identifies structural variants in the human genome. Nat Genet (2006) 6.93
Challenges and standards in integrating surveys of structural variation. Nat Genet (2007) 6.05
Complex SNP-related sequence variation in segmental genome duplications. Nat Genet (2004) 5.90
Accurate and reliable high-throughput detection of copy number variation in the human genome. Genome Res (2006) 5.50
A SNP in a let-7 microRNA complementary site in the KRAS 3' untranslated region increases non-small cell lung cancer risk. Cancer Res (2008) 5.05
Multiple recurrent genetic events converge on control of histone lysine methylation in medulloblastoma. Nat Genet (2009) 4.52
The Database of Genomic Variants: a curated collection of structural variation in the human genome. Nucleic Acids Res (2013) 4.42
Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med (2010) 4.19
A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet (2002) 4.03
Public data archives for genomic structural variation. Nat Genet (2010) 3.92
Copy-number variation in control population cohorts. Hum Mol Genet (2007) 3.88
Hunter-gatherer genomic diversity suggests a southern African origin for modern humans. Proc Natl Acad Sci U S A (2011) 3.53
Implications of biogeography of human populations for 'race' and medicine. Nat Genet (2004) 3.34
The genetic structure of Pacific Islanders. PLoS Genet (2008) 3.31
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25
Ethnic India: a genomic view, with special reference to peopling and structure. Genome Res (2003) 2.88
Towards a comprehensive structural variation map of an individual human genome. Genome Biol (2010) 2.79
Intelligence, race, and genetics. Am Psychol (2005) 2.76
Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain. Nat Struct Mol Biol (2011) 2.73
ALFRED: An allele frequency database for anthropology. Am J Phys Anthropol (2002) 2.67
A global perspective on genetic variation at the ADH genes reveals unusual patterns of linkage disequilibrium and diversity. Am J Hum Genet (2002) 2.60
Developing a SNP panel for forensic identification of individuals. Forensic Sci Int (2005) 2.55
Evidence of positive selection acting at the human dopamine receptor D4 gene locus. Proc Natl Acad Sci U S A (2001) 2.48
Global diversity and evidence for coevolution of KIR and HLA. Nat Genet (2007) 2.40
Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense. PLoS Genet (2009) 2.35
MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Nat Genet (2005) 2.32
Global and unbiased detection of splice junctions from RNA-seq data. Genome Biol (2010) 2.32
Bitter receptor gene (TAS2R38), 6-n-propylthiouracil (PROP) bitterness and alcohol intake. Alcohol Clin Exp Res (2004) 2.26
Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome. Proc Natl Acad Sci U S A (2008) 2.22
Supertasting and PROP bitterness depends on more than the TAS2R38 gene. Chem Senses (2008) 2.18
Low nucleotide diversity in chimpanzees and bonobos. Genetics (2003) 2.16
Polymorphisms associated with asthma are inversely related to glioblastoma multiforme. Cancer Res (2005) 2.11
Vibratory Urticaria Associated with a Missense Variant in ADGRE2. N Engl J Med (2016) 2.09
Inferring the demographic history of African farmers and pygmy hunter-gatherers using a multilocus resequencing data set. PLoS Genet (2009) 2.07
Maternal traces of deep common ancestry and asymmetric gene flow between Pygmy hunter-gatherers and Bantu-speaking farmers. Proc Natl Acad Sci U S A (2008) 1.96
Effects of traditional and western environments on prevalence of type 2 diabetes in Pima Indians in Mexico and the U.S. Diabetes Care (2006) 1.96
HGVbaseG2P: a central genetic association database. Nucleic Acids Res (2008) 1.90
Variant in the glucokinase regulatory protein (GCKR) gene is associated with fatty liver in obese children and adolescents. Hepatology (2011) 1.79
Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome Med (2011) 1.78
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet A (2006) 1.70
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture. PLoS Genet (2013) 1.68
Toward a roadmap in global biobanking for health. Eur J Hum Genet (2012) 1.65
Rare BRCA1 haplotypes including 3'UTR SNPs associated with breast cancer risk. Cell Cycle (2011) 1.64
Targeted enrichment of genomic DNA regions for next-generation sequencing. Brief Funct Genomics (2011) 1.63
Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nat Genet (2012) 1.62
Geographic and haplotype structure of candidate type 2 diabetes susceptibility variants at the calpain-10 locus. Am J Hum Genet (2002) 1.61
Genotype-phenotype databases: challenges and solutions for the post-genomic era. Nat Rev Genet (2009) 1.52
DNA, diseases and databases: disastrously deficient. Trends Genet (2005) 1.50
Refined geographic distribution of the oriental ALDH2*504Lys (nee 487Lys) variant. Ann Hum Genet (2009) 1.49
Genotyping and haplotyping of CYP2C19 functional alleles on thin-film biosensor chips. Pharmacogenet Genomics (2007) 1.49
The evolution and population genetics of the ALDH2 locus: random genetic drift, selection, and low levels of recombination. Ann Hum Genet (2004) 1.49
Evidence of positive selection on a class I ADH locus. Am J Hum Genet (2007) 1.48
SNPs for a universal individual identification panel. Hum Genet (2010) 1.42
The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button. BMC Bioinformatics (2010) 1.42
Single nucleotide polymorphisms in the proximal promoter region of the adiponectin (APM1) gene are associated with type 2 diabetes in Swedish caucasians. Diabetes (2004) 1.41
Candidate SNPs for a universal individual identification panel. Hum Genet (2007) 1.39
Geographically separate increases in the frequency of the derived ADH1B*47His allele in eastern and western Asia. Am J Hum Genet (2007) 1.37