Published in Science on May 17, 2012
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Neutral genomic regions refine models of recent rapid human population growth. Proc Natl Acad Sci U S A (2013) 1.25
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Adaptive evolution: evaluating empirical support for theoretical predictions. Nat Rev Genet (2012) 1.22
Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum Mutat (2013) 1.20
The impact of population demography and selection on the genetic architecture of complex traits. PLoS Genet (2014) 1.19
Fine-scale patterns of population stratification confound rare variant association tests. PLoS One (2013) 1.18
Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect. Genetics (2013) 1.17
Whole-genome and whole-exome sequencing in neurological diseases. Nat Rev Neurol (2012) 1.17
Quantitative trait locus analysis for next-generation sequencing with the functional linear models. J Med Genet (2012) 1.16
Prostate cancer in young men: an important clinical entity. Nat Rev Urol (2014) 1.15
The relationship between F(ST) and the frequency of the most frequent allele. Genetics (2012) 1.15
The role of selection in shaping diversity of natural M. tuberculosis populations. PLoS Pathog (2013) 1.15
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. PLoS One (2014) 1.14
Low frequency variants, collapsed based on biological knowledge, uncover complexity of population stratification in 1000 genomes project data. PLoS Genet (2013) 1.12
The genetics and functional analysis of primary osteoarthritis susceptibility. Expert Rev Mol Med (2013) 1.10
Interpreting the role of de novo protein-coding mutations in neuropsychiatric disease. Nat Genet (2013) 1.10
The impact of rare variation on gene expression across tissues. Nature (2017) 1.09
The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease. PLoS Genet (2015) 1.08
Pharmacogenomics in clinical practice and drug development. Nat Biotechnol (2012) 1.08
Estimating genetic effects and quantifying missing heritability explained by identified rare-variant associations. Am J Hum Genet (2012) 1.07
Additive genetic variation in schizophrenia risk is shared by populations of African and European descent. Am J Hum Genet (2013) 1.07
Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets. PLoS Genet (2013) 1.04
The influence of genomic context on mutation patterns in the human genome inferred from rare variants. Genome Res (2013) 1.04
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Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. PLoS Genet (2013) 1.03
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Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset. Hum Mol Genet (2013) 1.00
Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. Am J Hum Genet (2014) 0.99
Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism. PLoS Genet (2014) 0.98
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Whole-exome sequencing of a pedigree segregating asthma. BMC Med Genet (2012) 0.95
Ancestry estimation and control of population stratification for sequence-based association studies. Nat Genet (2014) 0.94
Genes and epigenetic processes as prospective pain targets. Genome Med (2013) 0.93
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GWAS and drug targets. BMC Genomics (2014) 0.93
Massively parallel sequencing: the new frontier of hematologic genomics. Blood (2013) 0.93
Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome. Am J Hum Genet (2014) 0.93
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Soft selective sweeps in complex demographic scenarios. Genetics (2014) 0.92
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Leveraging Distant Relatedness to Quantify Human Mutation and Gene-Conversion Rates. Am J Hum Genet (2015) 0.91
Biochemical analysis of six genetic variants of error-prone human DNA polymerase ι involved in translesion DNA synthesis. Chem Res Toxicol (2014) 0.90
Dissecting complex traits using the Drosophila Synthetic Population Resource. Trends Genet (2014) 0.90
Predicting signatures of "synthetic associations" and "natural associations" from empirical patterns of human genetic variation. PLoS Comput Biol (2012) 0.90
BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge. BMC Med Genomics (2013) 0.90
Clinical implications of human population differences in genome-wide rates of functional genotypes. Front Genet (2012) 0.90
Pathway-based approaches for sequencing-based genome-wide association studies. Genet Epidemiol (2013) 0.90
Exome Sequencing of Neonatal Blood Spots and the Identification of Genes Implicated in Bronchopulmonary Dysplasia. Am J Respir Crit Care Med (2015) 0.89
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A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease. Sci Transl Med (2016) 0.89
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Genome-wide analysis of single nucleotide polymorphisms uncovers population structure in Northern Europe. PLoS One (2008) 3.09
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A human gut microbial gene catalogue established by metagenomic sequencing. Nature (2010) 43.63
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science (2007) 43.16
A draft sequence of the rice genome (Oryza sativa L. ssp. indica). Science (2002) 42.78
SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics (2009) 39.47
A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity. Science (2007) 37.88
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. Science (2007) 32.97
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Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet (2008) 30.20
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Enterotypes of the human gut microbiome. Nature (2011) 24.36
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