Published in PLoS Genet on February 03, 2011
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A data-driven method for identifying rare variants with heterogeneous trait effects. Genet Epidemiol (2011) 0.95
Incorporating biological information into association studies of sequencing data. Genet Epidemiol (2011) 0.91
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BioBin: a bioinformatics tool for automating the binning of rare variants using publicly available biological knowledge. BMC Med Genomics (2013) 0.90
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Mining the LIPG allelic spectrum reveals the contribution of rare and common regulatory variants to HDL cholesterol. PLoS Genet (2011) 0.88
Rare variant analysis of blood pressure phenotypes in the Genetic Analysis Workshop 18 whole genome sequencing data using sequence kernel association test. BMC Proc (2014) 0.87
SEQCHIP: a powerful method to integrate sequence and genotype data for the detection of rare variant associations. Bioinformatics (2012) 0.86
Identifying rare disease variants in the Genetic Analysis Workshop 17 simulated data: a comparison of several statistical approaches. BMC Proc (2011) 0.86
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Stratification-score matching improves correction for confounding by population stratification in case-control association studies. Genet Epidemiol (2012) 0.85
Leveraging prior information to detect causal variants via multi-variant regression. PLoS Comput Biol (2013) 0.85
Adjusting family relatedness in data-driven burden test of rare variants. Genet Epidemiol (2014) 0.84
Two-stage extreme phenotype sequencing design for discovering and testing common and rare genetic variants: efficiency and power. Hum Hered (2012) 0.84
Testing for rare variant associations in complex diseases. Genome Med (2011) 0.84
Evaluating the impact of genotype errors on rare variant tests of association. Front Genet (2014) 0.82
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Using BioBin to explore rare variant population stratification. Pac Symp Biocomput (2013) 0.81
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Testing genetic association with rare variants in admixed populations. Genet Epidemiol (2012) 0.78
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BETASEQ: a powerful novel method to control type-I error inflation in partially sequenced data for rare variant association testing. Bioinformatics (2013) 0.77
Testing rare variants for association with diseases: a Bayesian marker selection approach. Ann Hum Genet (2011) 0.77
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False discovery rates for rare variants from sequenced data. Genet Epidemiol (2014) 0.75
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Insights into blood lipids from rare variant discovery. Curr Opin Genet Dev (2015) 0.75
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Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
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Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science (2004) 21.65
The impact of next-generation sequencing technology on genetics. Trends Genet (2008) 21.07
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet (2009) 19.64
Personal genomes: The case of the missing heritability. Nature (2008) 19.56
Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science (2009) 16.35
Pooled association tests for rare variants in exon-resequencing studies. Am J Hum Genet (2010) 13.18
Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nat Genet (2008) 11.80
An evaluation of statistical approaches to rare variant analysis in genetic association studies. Genet Epidemiol (2010) 10.54
The allelic architecture of human disease genes: common disease-common variant...or not? Hum Mol Genet (2002) 10.08
Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels. Proc Natl Acad Sci U S A (2006) 8.20
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
GENOME: a rapid coalescent-based whole genome simulator. Bioinformatics (2007) 3.65
Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas. Proc Natl Acad Sci U S A (2004) 3.62
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Rare variant hypothesis for multifactorial inheritance: susceptibility to colorectal adenomas as a model. Cell Cycle (2005) 1.92
A common genetic variant is associated with adult and childhood obesity. Science (2006) 14.95
Functional impact of global rare copy number variation in autism spectrum disorders. Nature (2010) 14.66
Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet (2007) 14.05
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet (2011) 10.07
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature (2009) 9.47
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature (2009) 7.39
Family-based tests for associating haplotypes with general phenotype data: application to asthma genetics. Genet Epidemiol (2004) 5.57
Genomic screening and replication using the same data set in family-based association testing. Nat Genet (2005) 5.44
Synaptic, transcriptional and chromatin genes disrupted in autism. Nature (2014) 5.30
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Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE. Am J Hum Genet (2008) 4.66
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Family-based association between Alzheimer's disease and variants in UBQLN1. N Engl J Med (2005) 4.34
MMP12, lung function, and COPD in high-risk populations. N Engl J Med (2009) 3.96
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Variants in FAM13A are associated with chronic obstructive pulmonary disease. Nat Genet (2010) 3.44
A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet (2010) 3.42
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet (2009) 3.42
Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. Am J Hum Genet (2009) 3.41
On the replication of genetic associations: timing can be everything! Am J Hum Genet (2008) 3.32
Combined analysis from eleven linkage studies of bipolar disorder provides strong evidence of susceptibility loci on chromosomes 6q and 8q. Am J Hum Genet (2005) 3.24
Rapid diagnosis of smear-negative tuberculosis by bronchoalveolar lavage enzyme-linked immunospot. Am J Respir Crit Care Med (2006) 3.12
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Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. JAMA (2013) 2.58
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Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. Am J Med Genet B Neuropsychiatr Genet (2008) 2.53
Estimating the number of unseen variants in the human genome. Proc Natl Acad Sci U S A (2009) 2.47
Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Hum Mol Genet (2012) 2.46
The SERPINE2 gene is associated with chronic obstructive pulmonary disease. Am J Hum Genet (2005) 2.46
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Genome-wide association scan of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet (2008) 2.40
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