Published in Proc Natl Acad Sci U S A on February 09, 2004
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Common genetic polymorphisms affect the human requirement for the nutrient choline. FASEB J (2006) 1.88
Assembly and diploid architecture of an individual human genome via single-molecule technologies. Nat Methods (2015) 1.83
Extensive copy-number variation of the human olfactory receptor gene family. Am J Hum Genet (2008) 1.71
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Whole genome computational comparative genomics: A fruitful approach for ascertaining Alu insertion polymorphisms. Gene (2006) 1.68
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Gene Ontology annotation quality analysis in model eukaryotes. Nucleic Acids Res (2008) 1.50
Closing gaps in the human genome using sequencing by synthesis. Genome Biol (2009) 1.46
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Detecting heterozygosity in shotgun genome assemblies: Lessons from obligately outcrossing nematodes. Genome Res (2009) 1.27
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A practical algorithm for finding maximal exact matches in large sequence datasets using sparse suffix arrays. Bioinformatics (2009) 1.16
Optical mapping discerns genome wide DNA methylation profiles. BMC Mol Biol (2008) 1.14
New Generations: Sequencing Machines and Their Computational Challenges. J Comput Sci Technol (2010) 1.12
Characterization and genome sequencing of phage Abp1, a new phiKMV-like virus infecting multidrug-resistant Acinetobacter baumannii. Curr Microbiol (2013) 1.12
Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintock to modern genetic-counseling issues. Am J Hum Genet (2008) 1.09
Plasmodium immunomics. Int J Parasitol (2010) 1.09
Discovery of novel tumor suppressor p53 response elements using information theory. Nucleic Acids Res (2008) 0.98
Bioinformatics for the Human Microbiome Project. PLoS Comput Biol (2012) 0.97
The HuRef Browser: a web resource for individual human genomics. Nucleic Acids Res (2008) 0.96
Mouse models of sarcomas: critical tools in our understanding of the pathobiology. Clin Sarcoma Res (2012) 0.89
Reassociation kinetics-based approach for partial genome sequencing of the cattle tick, Rhipicephalus (Boophilus) microplus. BMC Genomics (2010) 0.86
Finishing the finished human chromosome 22 sequence. Genome Biol (2008) 0.84
Sharing Data to Build a Medical Information Commons: From Bermuda to the Global Alliance. Annu Rev Genomics Hum Genet (2017) 0.82
Comprehensively identifying and characterizing the missing gene sequences in human reference genome with integrated analytic approaches. Hum Genet (2013) 0.80
Functional characterization of the promoter for the mouse SPTLC2 gene, which encodes subunit 2 of serine palmitoyltransferase. FEBS Lett (2006) 0.80
CD8(+) T cell-mediated immunity during Trypanosoma cruzi infection: a path for vaccine development? Mediators Inflamm (2014) 0.80
A dual-fluorescence reporter system for high-throughput clone characterization and selection by cell sorting. Nucleic Acids Res (2005) 0.79
Genomic approaches for the discovery of genes mutated in inherited retinal degeneration. Cold Spring Harb Perspect Med (2014) 0.77
A short history of the genome-wide association study: where we were and where we are going. Genomics Inform (2012) 0.77
Computational biology methods and their application to the comparative genomics of endocellular symbiotic bacteria of insects. Biol Proced Online (2009) 0.76
Overlapping of genes in the human genome. Int J Biomed Sci (2007) 0.75
Optimal reference sequence selection for genome assembly using minimum description length principle. EURASIP J Bioinform Syst Biol (2012) 0.75
Dissecting evolution and disease using comparative vertebrate genomics. Nat Rev Genet (2017) 0.75
Hybrid assembly with long and short reads improves discovery of gene family expansions. BMC Genomics (2017) 0.75
Initial sequencing and analysis of the human genome. Nature (2001) 212.86
The sequence of the human genome. Science (2001) 101.55
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
The genome sequence of Drosophila melanogaster. Science (2000) 74.32
Whole-genome random sequencing and assembly of Haemophilus influenzae Rd. Science (1995) 68.34
RefSeq and LocusLink: NCBI gene-centered resources. Nucleic Acids Res (2001) 45.29
A whole-genome assembly of Drosophila. Science (2000) 38.48
Human-mouse alignments with BLASTZ. Genome Res (2003) 35.49
LAGAN and Multi-LAGAN: efficient tools for large-scale multiple alignment of genomic DNA. Genome Res (2003) 23.03
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Recent segmental duplications in the human genome. Science (2002) 21.30
Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science (2002) 20.59
The genome sequence of the malaria mosquito Anopheles gambiae. Science (2002) 20.36
A vision for the future of genomics research. Nature (2003) 14.06
A physical map of the human genome. Nature (2001) 12.39
AVID: A global alignment program. Genome Res (2003) 10.06
A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Science (2002) 9.59
Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence. Genome Biol (2002) 8.07
The dog genome: survey sequencing and comparative analysis. Science (2003) 5.84
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Heterochromatic sequences in a Drosophila whole-genome shotgun assembly. Genome Biol (2002) 5.09
The DNA sequence and analysis of human chromosome 6. Nature (2003) 4.75
A new strategy for genome sequencing. Nature (1996) 4.61
Design of a compartmentalized shotgun assembler for the human genome. Bioinformatics (2001) 3.55
Human BAC ends quality assessment and sequence analyses. Genomics (2000) 2.25
Masquerading repeats: paralogous pitfalls of the human genome. Genome Res (1998) 2.15
The SNP Consortium website: past, present and future. Nucleic Acids Res (2003) 2.08
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Massive parallelism, randomness and genomic advances. Nat Genet (2003) 1.01
Genome sequencing in microfabricated high-density picolitre reactors. Nature (2005) 150.21
Finding the missing heritability of complex diseases. Nature (2009) 67.95
Versatile and open software for comparing large genomes. Genome Biol (2004) 49.45
Environmental genome shotgun sequencing of the Sargasso Sea. Science (2004) 45.23
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Genome sequence of the human malaria parasite Plasmodium falciparum. Nature (2002) 37.89
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
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
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
The Sorcerer II Global Ocean Sampling expedition: northwest Atlantic through eastern tropical Pacific. PLoS Biol (2007) 23.58
Enzymatic assembly of DNA molecules up to several hundred kilobases. Nat Methods (2009) 22.47
Recent segmental duplications in the human genome. Science (2002) 21.30
Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays. Science (2009) 21.24
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science (2008) 20.68
The genome sequence of the malaria mosquito Anopheles gambiae. Science (2002) 20.36
Large recurrent microdeletions associated with schizophrenia. Nature (2008) 20.25
CDD: a Conserved Domain Database for the functional annotation of proteins. Nucleic Acids Res (2010) 19.07
CDD: a Conserved Domain Database for protein classification. Nucleic Acids Res (2005) 18.85
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron (2011) 18.73
Assembling millions of short DNA sequences using SSAKE. Bioinformatics (2006) 18.71
Evolution of genes and genomes on the Drosophila phylogeny. Nature (2007) 18.01
SeqAn an efficient, generic C++ library for sequence analysis. BMC Bioinformatics (2008) 17.31
Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
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
The Sorcerer II Global Ocean Sampling expedition: expanding the universe of protein families. PLoS Biol (2007) 13.99
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
Creation of a bacterial cell controlled by a chemically synthesized genome. Science (2010) 13.45
Segmental duplications and copy-number variation in the human genome. Am J Hum Genet (2005) 13.33
Many sequence variants affecting diversity of adult human height. Nat Genet (2008) 12.80
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
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Discovery of functional elements in 12 Drosophila genomes using evolutionary signatures. Nature (2007) 11.66
The genome of the African trypanosome Trypanosoma brucei. Science (2005) 11.48
CDD: a conserved domain database for interactive domain family analysis. Nucleic Acids Res (2006) 11.41
GAGE: A critical evaluation of genome assemblies and assembly algorithms. Genome Res (2012) 11.33
Improving the Arabidopsis genome annotation using maximal transcript alignment assemblies. Nucleic Acids Res (2003) 11.03
Aggressive assembly of pyrosequencing reads with mates. Bioinformatics (2008) 11.01
Complete chemical synthesis, assembly, and cloning of a Mycoplasma genitalium genome. Science (2008) 10.90
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Natural selection on protein-coding genes in the human genome. Nature (2005) 10.84
CDD: specific functional annotation with the Conserved Domain Database. Nucleic Acids Res (2008) 10.73
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
Common sequence polymorphisms shaping genetic diversity in Arabidopsis thaliana. Science (2007) 9.85
A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Science (2002) 9.59