Published in Genome Res on October 03, 2008
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet (2009) 3.33
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Structural diversity and African origin of the 17q21.31 inversion polymorphism. Nat Genet (2012) 1.62
Validation of rearrangement break points identified by paired-end sequencing in natural populations of Drosophila melanogaster. Genome Biol Evol (2010) 1.17
The human Major Histocompatibility Complex as a paradigm in genomics research. Brief Funct Genomic Proteomic (2009) 1.11
A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PLoS One (2011) 1.05
Genomic pathology of SLE-associated copy-number variation at the FCGR2C/FCGR3B/FCGR2B locus. Am J Hum Genet (2012) 1.02
Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism. PLoS One (2009) 0.92
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet (2012) 0.90
Long span DNA paired-end-tag (DNA-PET) sequencing strategy for the interrogation of genomic structural mutations and fusion-point-guided reconstruction of amplicons. PLoS One (2012) 0.89
Haplotype specific-sequencing reveals MBL2 association with asymptomatic Plasmodium falciparum infection. Malar J (2009) 0.83
A definitive haplotype map as determined by genotyping duplicated haploid genomes finds a predominant haplotype preference at copy-number variation events. Am J Hum Genet (2010) 0.82
Determination of haplotypes at structurally complex regions using emulsion haplotype fusion PCR. BMC Genomics (2012) 0.82
Recent advances in molecular technologies and their application in pathogen detection in foods with particular reference to yersinia. J Pathog (2011) 0.78
Single-molecule analysis of genome rearrangements in cancer. Nucleic Acids Res (2011) 0.78
Modeling Human Population Separation History Using Physically Phased Genomes. Genetics (2016) 0.75
The human genome browser at UCSC. Genome Res (2002) 168.23
BLAT--the BLAST-like alignment tool. Genome Res (2002) 126.78
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A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
A new statistical method for haplotype reconstruction from population data. Am J Hum Genet (2001) 59.30
Optimal alignments in linear space. Comput Appl Biosci (1988) 38.10
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet (2003) 26.59
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
The impact of next-generation sequencing technology on genetics. Trends Genet (2008) 21.07
Direct selection of human genomic loci by microarray hybridization. Nat Methods (2007) 17.73
Multiplex amplification of large sets of human exons. Nat Methods (2007) 15.11
A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet (2006) 12.45
Microarray-based genomic selection for high-throughput resequencing. Nat Methods (2007) 9.62
Haplotype inference in random population samples. Am J Hum Genet (2002) 8.07
Completing the map of human genetic variation. Nature (2007) 4.38
Association of multiple sclerosis with ILT6 deficiency. Genes Immun (2005) 1.34
Long-term persistence of both functional and non-functional alleles at the leukocyte immunoglobulin-like receptor A3 (LILRA3) locus suggests balancing selection. Hum Genet (2006) 0.97
Detecting disease-causing mutations in the human genome by haplotype matching. Am J Hum Genet (2006) 0.89
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
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
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res (2005) 44.08
Integrated genomic analysis identifies clinically relevant subtypes of glioblastoma characterized by abnormalities in PDGFRA, IDH1, EGFR, and NF1. Cancer Cell (2010) 39.09
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
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Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med (2009) 33.09
Whole-genome sequencing and variant discovery in C. elegans. Nat Methods (2008) 31.92
Nonhybrid, finished microbial genome assemblies from long-read SMRT sequencing data. Nat Methods (2013) 31.15
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
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Fine-scale structural variation of the human genome. Nat Genet (2005) 24.31
Recent segmental duplications in the human genome. Science (2002) 21.30
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
International network of cancer genome projects. Nature (2010) 20.35
Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature (2010) 19.68
The B73 maize genome: complexity, diversity, and dynamics. Science (2009) 18.73
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods (2009) 18.41
Evolution of genes and genomes on the Drosophila phylogeny. Nature (2007) 18.01
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Finding functional features in Saccharomyces genomes by phylogenetic footprinting. Science (2003) 16.49
Characterizing the cancer genome in lung adenocarcinoma. Nature (2007) 16.48
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
Identification of a CpG island methylator phenotype that defines a distinct subgroup of glioma. Cancer Cell (2010) 16.12
VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics (2009) 16.04
VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res (2012) 15.90
Sequence and structural variation in a human genome uncovered by short-read, massively parallel ligation sequencing using two-base encoding. Genome Res (2009) 15.15
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature (2012) 14.33
DNMT3A mutations in acute myeloid leukemia. N Engl J Med (2010) 14.07
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
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
The genome sequence of Caenorhabditis briggsae: a platform for comparative genomics. PLoS Biol (2003) 13.32
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature (2003) 12.44
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet (2009) 11.73
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Ancestral reconstruction of segmental duplications reveals punctuated cores of human genome evolution. Nat Genet (2007) 10.38
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet (2006) 10.36
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature (2012) 9.89
De novo gene disruptions in children on the autistic spectrum. Neuron (2012) 9.69
The origin and evolution of mutations in acute myeloid leukemia. Cell (2012) 9.66
A copy number variation morbidity map of developmental delay. Nat Genet (2011) 9.58
Complete Khoisan and Bantu genomes from southern Africa. Nature (2010) 9.06
Limitations of next-generation genome sequence assembly. Nat Methods (2010) 9.04
Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature (2010) 8.99
Diversity of human copy number variation and multicopy genes. Science (2010) 8.97
A high-resolution map of human evolutionary constraint using 29 mammals. Nature (2011) 8.67
A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet (2006) 8.61
Comparison of genome degradation in Paratyphi A and Typhi, human-restricted serovars of Salmonella enterica that cause typhoid. Nat Genet (2004) 8.60
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet (2008) 8.44
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
A catalog of reference genomes from the human microbiome. Science (2010) 8.10
Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature (2012) 8.03
Shotgun sequence assembly and recent segmental duplications within the human genome. Nature (2004) 7.91
A high-coverage genome sequence from an archaic Denisovan individual. Science (2012) 7.89
Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome. Am J Hum Genet (2006) 7.70
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. Nat Genet (2012) 7.61
De novo mutations in epileptic encephalopathies. Nature (2013) 7.42
Genome structural variation discovery and genotyping. Nat Rev Genet (2011) 7.34
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
Clonal architecture of secondary acute myeloid leukemia. N Engl J Med (2012) 6.71
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay. Nat Genet (2010) 6.62
Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res (2009) 6.42
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet (2009) 6.21
Genomic landscape of non-small cell lung cancer in smokers and never-smokers. Cell (2012) 6.09
Whole-genome shotgun assembly and comparison of human genome assemblies. Proc Natl Acad Sci U S A (2004) 6.08
Challenges and standards in integrating surveys of structural variation. Nat Genet (2007) 6.05
Viral discovery and sequence recovery using DNA microarrays. PLoS Biol (2003) 5.95
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet (2009) 5.93
Complex SNP-related sequence variation in segmental genome duplications. Nat Genet (2004) 5.90
The genome of a songbird. Nature (2010) 5.90