Published in Nature on November 28, 2012
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Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals. Nat Commun (2015) 1.23
DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics (2014) 1.22
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Comprehensive genomic analysis of malignant pleural mesothelioma identifies recurrent mutations, gene fusions and splicing alterations. Nat Genet (2016) 1.15
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med (2014) 1.14
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. Hum Genet (2014) 1.10
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Inactivating CUX1 mutations promote tumorigenesis. Nat Genet (2013) 1.06
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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
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Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. Am J Hum Genet (2014) 0.99
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Comparison of GENCODE and RefSeq gene annotation and the impact of reference geneset on variant effect prediction. BMC Genomics (2015) 0.96
The ICR1000 UK exome series: a resource of gene variation in an outbred population. F1000Res (2015) 0.95
Improved ancestry estimation for both genotyping and sequencing data using projection procrustes analysis and genotype imputation. Am J Hum Genet (2015) 0.95
PRIMUS: rapid reconstruction of pedigrees from genome-wide estimates of identity by descent. Am J Hum Genet (2014) 0.95
Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections. Nat Med (2013) 0.94
Ancestry estimation and control of population stratification for sequence-based association studies. Nat Genet (2014) 0.94
Distortion of genealogical properties when the sample is very large. Proc Natl Acad Sci U S A (2014) 0.93
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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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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc (2009) 38.62
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MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods (2010) 16.61
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Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet (2009) 9.16
Identifying a high fraction of the human genome to be under selective constraint using GERP++. PLoS Comput Biol (2010) 8.69
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people. Science (2012) 7.94
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Proportionally more deleterious genetic variation in European than in African populations. Nature (2008) 6.61
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Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet (2006) 1.92
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LAMC1 gene is associated with premature ovarian failure. Maturitas (2012) 1.08
The Sequence Alignment/Map format and SAMtools. Bioinformatics (2009) 232.39
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A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
EGFR mutations in lung cancer: correlation with clinical response to gefitinib therapy. Science (2004) 61.56
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
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PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet (2003) 53.59
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
The structure of haplotype blocks in the human genome. Science (2002) 50.88
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell (2010) 39.09
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
The landscape of somatic copy-number alteration across human cancers. Nature (2010) 31.88
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol (2009) 27.17
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Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet (2008) 20.73
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
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New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
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Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
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Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
The accessible chromatin landscape of the human genome. Nature (2012) 16.86
Assessing the impact of population stratification on genetic association studies. Nat Genet (2004) 16.28
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