Published in Nat Genet on July 01, 2012
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Large multiallelic copy number variations in humans. Nat Genet (2015) 1.79
Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nat Genet (2012) 1.62
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Evolution and diversity of copy number variation in the great ape lineage. Genome Res (2013) 1.29
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Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity. Nat Genet (2015) 1.13
A novel Alzheimer disease locus located near the gene encoding tau protein. Mol Psychiatry (2015) 1.10
Technical considerations for genotyping multi-allelic copy number variation (CNV), in regions of segmental duplication. BMC Genomics (2014) 0.98
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Selection on meiosis genes in diploid and tetraploid Arabidopsis arenosa. Mol Biol Evol (2014) 0.87
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Copy number variations and genetic admixtures in three Xinjiang ethnic minority groups. Eur J Hum Genet (2014) 0.80
The effect of genomic inversions on estimation of population genetic parameters from SNP data. Genetics (2012) 0.79
Cytogenomic Aberrations in Congenital Cardiovascular Malformations. Mol Syndromol (2016) 0.79
MUC5B and Idiopathic Pulmonary Fibrosis. Ann Am Thorac Soc (2015) 0.78
Human adaptation and evolution by segmental duplication. Curr Opin Genet Dev (2016) 0.78
Human inversions and their functional consequences. Brief Funct Genomics (2015) 0.78
Gene expression, methylation and neuropathology correlations at progressive supranuclear palsy risk loci. Acta Neuropathol (2016) 0.77
Haplotype phasing and inheritance of copy number variants in nuclear families. PLoS One (2015) 0.75
The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet (2015) 0.75
Reassessing the Evolutionary History of the 17q21 Inversion Polymorphism. Genome Biol Evol (2015) 0.75
The Genomic Scrapheap Challenge; Extracting Relevant Data from Unmapped Whole Genome Sequencing Reads, Including Strain Specific Genomic Segments, in Rats. PLoS One (2016) 0.75
An exploratory study of predisposing genetic factors for DiGeorge/velocardiofacial syndrome. Sci Rep (2017) 0.75
Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe. Genome Med (2016) 0.75
Identification of KANSARL as the first cancer predisposition fusion gene specific to the population of European ancestry origin. Oncotarget (2017) 0.75
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A haplotype map of the human genome. Nature (2005) 105.70
Global variation in copy number in the human genome. Nature (2006) 57.50
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
Genotype imputation. Annu Rev Genomics Hum Genet (2009) 18.64
A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am J Hum Genet (2009) 17.80
Association of trypanolytic ApoL1 variants with kidney disease in African Americans. Science (2010) 16.00
Transcriptome genetics using second generation sequencing in a Caucasian population. Nature (2010) 14.85
Genotype imputation for genome-wide association studies. Nat Rev Genet (2010) 14.59
A common inversion under selection in Europeans. Nat Genet (2005) 13.66
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet (2009) 10.34
High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem (2011) 10.11
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet (2006) 9.44
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet (2011) 6.67
The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans. Nat Genet (2009) 3.81
Missing data imputation and haplotype phase inference for genome-wide association studies. Hum Genet (2008) 3.65
Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet (2008) 3.42
A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16. Mol Cell Biol (2005) 3.04
Two mammalian MOF complexes regulate transcription activation by distinct mechanisms. Mol Cell (2009) 2.32
Genetic analysis of variation in human meiotic recombination. PLoS Genet (2009) 2.11
Linkage disequilibrium and association of MAPT H1 in Parkinson disease. Am J Hum Genet (2004) 2.10
Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nat Genet (2012) 1.62
E(nos)/CG4699 required for nanos function in the female germ line of Drosophila. Genesis (2010) 1.47
Variation in human recombination rates and its genetic determinants. PLoS One (2011) 1.39
Characterizing complex structural variation in germline and somatic genomes. Trends Genet (2011) 1.25
Copy-number analysis goes more than skin deep. Nat Genet (2008) 1.24
Assessment of complement C4 gene copy number using the paralog ratio test. Hum Mutat (2010) 0.97
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Finding the missing heritability of complex diseases. Nature (2009) 67.95
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
The variant call format and VCFtools. Bioinformatics (2011) 25.88
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature (2005) 23.04
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics (2008) 15.77
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
Genes that act downstream of DAF-16 to influence the lifespan of Caenorhabditis elegans. Nature (2003) 14.49
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Whole-genome sequence assembly for mammalian genomes: Arachne 2. Genome Res (2003) 12.30
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Genome duplication in the teleost fish Tetraodon nigroviridis reveals the early vertebrate proto-karyotype. Nature (2004) 11.03
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
A high-resolution map of human evolutionary constraint using 29 mammals. Nature (2011) 8.67
Copy number variation: new insights in genome diversity. Genome Res (2006) 8.66
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nat Genet (2013) 8.02
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Genome of the marsupial Monodelphis domestica reveals innovation in non-coding sequences. Nature (2007) 7.91
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44
Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence. N Engl J Med (2014) 6.89
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet (2011) 6.67
The mosaic structure of variation in the laboratory mouse genome. Nature (2002) 6.54
Genome sequence and analysis of the Irish potato famine pathogen Phytophthora infestans. Nature (2009) 6.44
Efficient mapping of mendelian traits in dogs through genome-wide association. Nat Genet (2007) 5.99
Whole-genome resequencing reveals loci under selection during chicken domestication. Nature (2010) 5.48
Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol (2009) 5.45
The genomic basis of adaptive evolution in threespine sticklebacks. Nature (2012) 5.20
Identifying novel constrained elements by exploiting biased substitution patterns. Bioinformatics (2009) 4.30
De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet (2009) 3.86
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. Diabetes (2007) 3.84
Advancing RNA-Seq analysis. Nat Biotechnol (2010) 3.54
Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet (2012) 3.50
Whole genome deep sequencing of HIV-1 reveals the impact of early minor variants upon immune recognition during acute infection. PLoS Pathog (2012) 3.35
Drug-sensitive FGFR2 mutations in endometrial carcinoma. Proc Natl Acad Sci U S A (2008) 3.30
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Analysis of copy number variations at 15 schizophrenia-associated loci. Br J Psychiatry (2013) 3.01
Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function. PLoS Genet (2010) 2.68
Genome evolution following host jumps in the Irish potato famine pathogen lineage. Science (2010) 2.62
Single-tissue and cross-tissue heritability of gene expression via identity-by-descent in related or unrelated individuals. PLoS Genet (2011) 2.53
Differential relationship of DNA replication timing to different forms of human mutation and variation. Am J Hum Genet (2012) 2.33
Why do human diversity levels vary at a megabase scale? Genome Res (2005) 2.33
Dynamics of dengue disease severity determined by the interplay between viral genetics and serotype-specific immunity. Sci Transl Med (2011) 2.29
Complete viral RNA genome sequencing of ultra-low copy samples by sequence-independent amplification. Nucleic Acids Res (2012) 2.19
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Highly sensitive and specific detection of rare variants in mixed viral populations from massively parallel sequence data. PLoS Comput Biol (2012) 1.93
DNA sequence and analysis of human chromosome 8. Nature (2006) 1.91
De novo assembly of highly diverse viral populations. BMC Genomics (2012) 1.87
zCall: a rare variant caller for array-based genotyping: genetics and population analysis. Bioinformatics (2012) 1.87
DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature (2006) 1.81
Large multiallelic copy number variations in humans. Nat Genet (2015) 1.79
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72
Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans. Hum Genet (2010) 1.54
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet (2013) 1.52
Closing gaps in the human genome using sequencing by synthesis. Genome Biol (2009) 1.46
Using population admixture to help complete maps of the human genome. Nat Genet (2013) 1.35
Ten things to know about oomycete effectors. Mol Plant Pathol (2009) 1.33
Copy-number analysis goes more than skin deep. Nat Genet (2008) 1.24
V-Phaser 2: variant inference for viral populations. BMC Genomics (2013) 1.19
CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Hum Mol Genet (2013) 1.14
High-resolution analysis of intrahost genetic diversity in dengue virus serotype 1 infection identifies mixed infections. J Virol (2011) 1.14
ATHLATES: accurate typing of human leukocyte antigen through exome sequencing. Nucleic Acids Res (2013) 1.13
The Rose-comb mutation in chickens constitutes a structural rearrangement causing both altered comb morphology and defective sperm motility. PLoS Genet (2012) 1.12
Mapping a new spontaneous preterm birth susceptibility gene, IGF1R, using linkage, haplotype sharing, and association analysis. PLoS Genet (2011) 1.09
Human chromosome 11 DNA sequence and analysis including novel gene identification. Nature (2006) 1.09
Novel origins of copy number variation in the dog genome. Genome Biol (2012) 1.06
DNA sequence and analysis of human chromosome 18. Nature (2005) 1.05
Mapping the human reference genome's missing sequence by three-way admixture in Latino genomes. Am J Hum Genet (2013) 1.01
Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. Genome Biol (2014) 0.98
Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes. BMC Genet (2008) 0.96
Identification of mixups among DNA sequencing plates. Bioinformatics (2002) 0.95
Whole genome pyrosequencing of rare hepatitis C virus genotypes enhances subtype classification and identification of naturally occurring drug resistance variants. J Infect Dis (2012) 0.94
Clonal hematopoiesis and blood-cancer risk. N Engl J Med (2015) 0.94
New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis. Int J Epidemiol (2015) 0.93
New insights into the biological basis of genomic disorders. Nat Genet (2006) 0.93
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet (2012) 0.90
Random replication of the inactive X chromosome. Genome Res (2013) 0.87
Exploring the variation within. Nat Genet (2012) 0.84
On the level: IRGM gene function is all about expression. Autophagy (2009) 0.83
Exploiting nucleotide composition to engineer promoters. PLoS One (2011) 0.82
Complex and multi-allelic copy number variation in human disease. Brief Funct Genomics (2015) 0.80