Published in Genome Res on June 22, 2009
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Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
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Haplotype-resolved genome sequencing of a Gujarati Indian individual. Nat Biotechnol (2010) 5.32
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Natural genetic variation caused by small insertions and deletions in the human genome. Genome Res (2011) 3.00
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Fluorogenic DNA sequencing in PDMS microreactors. Nat Methods (2011) 2.13
Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing. Nat Biotechnol (2011) 2.10
Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing. Nat Genet (2010) 2.08
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A comprehensively molecular haplotype-resolved genome of a European individual. Genome Res (2011) 1.83
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Single-stranded DNA library preparation for the sequencing of ancient or damaged DNA. Nat Protoc (2013) 1.80
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The genomic landscape shaped by selection on transposable elements across 18 mouse strains. Genome Biol (2012) 1.63
Targeted enrichment of genomic DNA regions for next-generation sequencing. Brief Funct Genomics (2011) 1.63
Alu repeat discovery and characterization within human genomes. Genome Res (2010) 1.62
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Paired-end sequencing of Fosmid libraries by Illumina. Genome Res (2012) 1.52
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Copy number variation in the bovine genome. BMC Genomics (2010) 1.45
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Whole genome resequencing of black Angus and Holstein cattle for SNP and CNV discovery. BMC Genomics (2011) 1.40
Characterizing natural variation using next-generation sequencing technologies. Trends Genet (2009) 1.39
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Characterization of a biogas-producing microbial community by short-read next generation DNA sequencing. Biotechnol Biofuels (2012) 1.31
Reducing INDEL calling errors in whole genome and exome sequencing data. Genome Med (2014) 1.30
Whole methylome analysis by ultra-deep sequencing using two-base encoding. PLoS One (2010) 1.29
Rainbow: a tool for large-scale whole-genome sequencing data analysis using cloud computing. BMC Genomics (2013) 1.24
A methylome-wide study of aging using massively parallel sequencing of the methyl-CpG-enriched genomic fraction from blood in over 700 subjects. Hum Mol Genet (2013) 1.24
Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome. EMBO J (2013) 1.24
The promise and reality of personal genomics. Genome Biol (2009) 1.21
Next-generation sequencing techniques for eukaryotic microorganisms: sequencing-based solutions to biological problems. Eukaryot Cell (2010) 1.18
A platform-independent method for detecting errors in metagenomic sequencing data: DRISEE. PLoS Comput Biol (2012) 1.18
MBD-seq as a cost-effective approach for methylome-wide association studies: demonstration in 1500 case--control samples. Epigenomics (2012) 1.16
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Genome sequence and global sequence variation map with 5.5 million SNPs in Chinese rhesus macaque. Genome Biol (2011) 1.13
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Whole-genome sequencing and analysis of the Malaysian cynomolgus macaque (Macaca fascicularis) genome. Genome Biol (2012) 1.12
Sequencing of isolated sperm cells for direct haplotyping of a human genome. Genome Res (2013) 1.11
SOLiD sequencing of four Vibrio vulnificus genomes enables comparative genomic analysis and identification of candidate clade-specific virulence genes. BMC Genomics (2010) 1.10
Saturation of the human phenome. Curr Genomics (2010) 1.09
BatMeth: improved mapper for bisulfite sequencing reads on DNA methylation. Genome Biol (2012) 1.09
Global assessment of genomic variation in cattle by genome resequencing and high-throughput genotyping. BMC Genomics (2011) 1.09
Telescoper: de novo assembly of highly repetitive regions. Bioinformatics (2012) 1.08
Identification of transcriptome SNPs between Xiphophorus lines and species for assessing allele specific gene expression within F₁ interspecies hybrids. Comp Biochem Physiol C Toxicol Pharmacol (2011) 1.05
A reduced representation approach to population genetic analyses and applications to human evolution. Genome Res (2011) 1.05
NGS catalog: A database of next generation sequencing studies in humans. Hum Mutat (2012) 1.05
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The human genome browser at UCSC. Genome Res (2002) 168.23
Genome sequencing in microfabricated high-density picolitre reactors. Nature (2005) 150.21
A haplotype map of the human genome. Nature (2005) 105.70
The sequence of the human genome. Science (2001) 101.55
Accurate whole human genome sequencing using reversible terminator chemistry. Nature (2008) 90.20
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
Global variation in copy number in the human genome. Nature (2006) 57.50
The complete genome of an individual by massively parallel DNA sequencing. Nature (2008) 52.81
Human non-synonymous SNPs: server and survey. Nucleic Acids Res (2002) 50.45
The diploid genome sequence of an Asian individual. Nature (2008) 46.29
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Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet (2008) 43.63
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature (2008) 38.13
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Whole-genome sequencing and variant discovery in C. elegans. Nat Methods (2008) 31.92
Stem cell transcriptome profiling via massive-scale mRNA sequencing. Nat Methods (2008) 31.04
Paired-end mapping reveals extensive structural variation in the human genome. Science (2007) 30.46
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res (2005) 30.44
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Real-time DNA sequencing from single polymerase molecules. Science (2008) 29.53
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Worldwide human relationships inferred from genome-wide patterns of variation. Science (2008) 22.44
PANTHER: a library of protein families and subfamilies indexed by function. Genome Res (2003) 21.64
Accurate multiplex polony sequencing of an evolved bacterial genome. Science (2005) 20.91
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
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Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88
An initial map of insertion and deletion (INDEL) variation in the human genome. Genome Res (2006) 11.60
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
Copy-number variation and association studies of human disease. Nat Genet (2007) 8.50
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Four-color DNA sequencing by synthesis using cleavable fluorescent nucleotide reversible terminators. Proc Natl Acad Sci U S A (2006) 2.58
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Primer-site SNPs mask mutations. Nat Methods (2007) 1.83
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Finding the missing heritability of complex diseases. Nature (2009) 67.95
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Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome. Nat Genet (2007) 32.41
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Recent segmental duplications in the human genome. Science (2002) 21.30
An integrated semiconductor device enabling non-optical genome sequencing. Nature (2011) 20.85
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature (2009) 18.39
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