Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Subscribe

Logo for

Science 291 (5507): 1304-1351

Copyright © 2001 by the American Association for the Advancement of Science

The Sequence of the Human Genome

J. Craig Venter,1* Mark D. Adams,1 Eugene W. Myers,1 Peter W. Li,1 Richard J. Mural,1 Granger G. Sutton,1 Hamilton O. Smith,1 Mark Yandell,1 Cheryl A. Evans,1 Robert A. Holt,1 Jeannine D. Gocayne,1 Peter Amanatides,1 Richard M. Ballew,1 Daniel H. Huson,1 Jennifer Russo Wortman,1 Qing Zhang,1 Chinnappa D. Kodira,1 Xiangqun H. Zheng,1 Lin Chen,1 Marian Skupski,1 Gangadharan Subramanian,1 Paul D. Thomas,1 Jinghui Zhang,1 George L. Gabor Miklos,2 Catherine Nelson,3 Samuel Broder,1 Andrew G. Clark,4 Joe Nadeau,5 Victor A. McKusick,6 Norton Zinder,7 Arnold J. Levine,7 Richard J. Roberts,8 Mel Simon,9 Carolyn Slayman,10 Michael Hunkapiller,11 Randall Bolanos,1 Arthur Delcher,1 Ian Dew,1 Daniel Fasulo,1 Michael Flanigan,1 Liliana Florea,1 Aaron Halpern,1 Sridhar Hannenhalli,1 Saul Kravitz,1 Samuel Levy,1 Clark Mobarry,1 Knut Reinert,1 Karin Remington,1 Jane Abu-Threideh,1 Ellen Beasley,1 Kendra Biddick,1 Vivien Bonazzi,1 Rhonda Brandon,1 Michele Cargill,1 Ishwar Chandramouliswaran,1 Rosane Charlab,1 Kabir Chaturvedi,1 Zuoming Deng,1 Valentina Di Francesco,1 Patrick Dunn,1 Karen Eilbeck,1 Carlos Evangelista,1 Andrei E. Gabrielian,1 Weiniu Gan,1 Wangmao Ge,1 Fangcheng Gong,1 Zhiping Gu,1 Ping Guan,1 Thomas J. Heiman,1 Maureen E. Higgins,1 Rui-Ru Ji,1 Zhaoxi Ke,1 Karen A. Ketchum,1 Zhongwu Lai,1 Yiding Lei,1 Zhenya Li,1 Jiayin Li,1 Yong Liang,1 Xiaoying Lin,1 Fu Lu,1 Gennady V. Merkulov,1 Natalia Milshina,1 Helen M. Moore,1 Ashwinikumar K Naik,1 Vaibhav A. Narayan,1 Beena Neelam,1 Deborah Nusskern,1 Douglas B. Rusch,1 Steven Salzberg,12 Wei Shao,1 Bixiong Shue,1 Jingtao Sun,1 Zhen Yuan Wang,1 Aihui Wang,1 Xin Wang,1 Jian Wang,1 Ming-Hui Wei,1 Ron Wides,13 Chunlin Xiao,1 Chunhua Yan,1 Alison Yao,1 Jane Ye,1 Ming Zhan,1 Weiqing Zhang,1 Hongyu Zhang,1 Qi Zhao,1 Liansheng Zheng,1 Fei Zhong,1 Wenyan Zhong,1 Shiaoping C. Zhu,1 Shaying Zhao,12 Dennis Gilbert,1 Suzanna Baumhueter,1 Gene Spier,1 Christine Carter,1 Anibal Cravchik,1 Trevor Woodage,1 Feroze Ali,1 Huijin An,1 Aderonke Awe,1 Danita Baldwin,1 Holly Baden,1 Mary Barnstead,1 Ian Barrow,1 Karen Beeson,1 Dana Busam,1 Amy Carver,1 Angela Center,1 Ming Lai Cheng,1 Liz Curry,1 Steve Danaher,1 Lionel Davenport,1 Raymond Desilets,1 Susanne Dietz,1 Kristina Dodson,1 Lisa Doup,1 Steven Ferriera,1 Neha Garg,1 Andres Gluecksmann,1 Brit Hart,1 Jason Haynes,1 Charles Haynes,1 Cheryl Heiner,1 Suzanne Hladun,1 Damon Hostin,1 Jarrett Houck,1 Timothy Howland,1 Chinyere Ibegwam,1 Jeffery Johnson,1 Francis Kalush,1 Lesley Kline,1 Shashi Koduru,1 Amy Love,1 Felecia Mann,1 David May,1 Steven McCawley,1 Tina McIntosh,1 Ivy McMullen,1 Mee Moy,1 Linda Moy,1 Brian Murphy,1 Keith Nelson,1 Cynthia Pfannkoch,1 Eric Pratts,1 Vinita Puri,1 Hina Qureshi,1 Matthew Reardon,1 Robert Rodriguez,1 Yu-Hui Rogers,1 Deanna Romblad,1 Bob Ruhfel,1 Richard Scott,1 Cynthia Sitter,1 Michelle Smallwood,1 Erin Stewart,1 Renee Strong,1 Ellen Suh,1 Reginald Thomas,1 Ni Ni Tint,1 Sukyee Tse,1 Claire Vech,1 Gary Wang,1 Jeremy Wetter,1 Sherita Williams,1 Monica Williams,1 Sandra Windsor,1 Emily Winn-Deen,1 Keriellen Wolfe,1 Jayshree Zaveri,1 Karena Zaveri,1 Josep F. Abril,14 Roderic Guigó,14 Michael J. Campbell,1 Kimmen V. Sjolander,1 Brian Karlak,1 Anish Kejariwal,1 Huaiyu Mi,1 Betty Lazareva,1 Thomas Hatton,1 Apurva Narechania,1 Karen Diemer,1 Anushya Muruganujan,1 Nan Guo,1 Shinji Sato,1 Vineet Bafna,1 Sorin Istrail,1 Ross Lippert,1 Russell Schwartz,1 Brian Walenz,1 Shibu Yooseph,1 David Allen,1 Anand Basu,1 James Baxendale,1 Louis Blick,1 Marcelo Caminha,1 John Carnes-Stine,1 Parris Caulk,1 Yen-Hui Chiang,1 My Coyne,1 Carl Dahlke,1 Anne Deslattes Mays,1 Maria Dombroski,1 Michael Donnelly,1 Dale Ely,1 Shiva Esparham,1 Carl Fosler,1 Harold Gire,1 Stephen Glanowski,1 Kenneth Glasser,1 Anna Glodek,1 Mark Gorokhov,1 Ken Graham,1 Barry Gropman,1 Michael Harris,1 Jeremy Heil,1 Scott Henderson,1 Jeffrey Hoover,1 Donald Jennings,1 Catherine Jordan,1 James Jordan,1 John Kasha,1 Leonid Kagan,1 Cheryl Kraft,1 Alexander Levitsky,1 Mark Lewis,1 Xiangjun Liu,1 John Lopez,1 Daniel Ma,1 William Majoros,1 Joe McDaniel,1 Sean Murphy,1 Matthew Newman,1 Trung Nguyen,1 Ngoc Nguyen,1 Marc Nodell,1 Sue Pan,1 Jim Peck,1 Marshall Peterson,1 William Rowe,1 Robert Sanders,1 John Scott,1 Michael Simpson,1 Thomas Smith,1 Arlan Sprague,1 Timothy Stockwell,1 Russell Turner,1 Eli Venter,1 Mei Wang,1 Meiyuan Wen,1 David Wu,1 Mitchell Wu,1 Ashley Xia,1 Ali Zandieh,1 Xiaohong Zhu1

A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. The 14.8-billion bp DNA sequence was generated over 9 months from 27,271,853 high-quality sequence reads (5.11-fold coverage of the genome) from both ends of plasmid clones made from the DNA of five individuals. Two assembly strategies--a whole-genome assembly and a regional chromosome assembly--were used, each combining sequence data from Celera and the publicly funded genome effort. The public data were shredded into 550-bp segments to create a 2.9-fold coverage of those genome regions that had been sequenced, without including biases inherent in the cloning and assembly procedure used by the publicly funded group. This brought the effective coverage in the assemblies to eightfold, reducing the number and size of gaps in the final assembly over what would be obtained with 5.11-fold coverage. The two assembly strategies yielded very similar results that largely agree with independent mapping data. The assemblies effectively cover the euchromatic regions of the human chromosomes. More than 90% of the genome is in scaffold assemblies of 100,000 bp or more, and 25% of the genome is in scaffolds of 10 million bp or larger. Analysis of the genome sequence revealed 26,588 protein-encoding transcripts for which there was strong corroborating evidence and an additional ~12,000 computationally derived genes with mouse matches or other weak supporting evidence. Although gene-dense clusters are obvious, almost half the genes are dispersed in low G+C sequence separated by large tracts of apparently noncoding sequence. Only 1.1% of the genome is spanned by exons, whereas 24% is in introns, with 75% of the genome being intergenic DNA. Duplications of segmental blocks, ranging in size up to chromosomal lengths, are abundant throughout the genome and reveal a complex evolutionary history. Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems. DNA sequence comparisons between the consensus sequence and publicly funded genome data provided locations of 2.1 million single-nucleotide polymorphisms (SNPs). A random pair of human haploid genomes differed at a rate of 1 bp per 1250 on average, but there was marked heterogeneity in the level of polymorphism across the genome. Less than 1% of all SNPs resulted in variation in proteins, but the task of determining which SNPs have functional consequences remains an open challenge.

1 Celera Genomics, 45 West Gude Drive, Rockville, MD 20850, USA.
2 GenetixXpress, 78 Pacific Road, Palm Beach, Sydney 2108, Australia.
3 Berkeley Drosophila Genome Project, University of California, Berkeley, CA 94720, USA.
4 Department of Biology, Penn State University, 208 Mueller Lab, University Park, PA 16802, USA.
5 Department of Genetics, Case Western Reserve University School of Medicine, BRB-630, 10900 Euclid Avenue, Cleveland, OH 44106, USA.
6 Johns Hopkins University School of Medicine, Johns Hopkins Hospital, 600 North Wolfe Street, Blalock 1007, Baltimore, MD 21287-4922, USA.
7 Rockefeller University, 1230 York Avenue, New York, NY 10021-6399, USA.
8 New England BioLabs, 32 Tozer Road, Beverly, MA 01915, USA.
9 Division of Biology, 147-75, California Institute of Technology, 1200 East California Boulevard, Pasadena, CA 91125, USA.
10 Yale University School of Medicine, 333 Cedar Street, P.O. Box 208000, New Haven, CT 06520-8000, USA.
11 Applied Biosystems, 850 Lincoln Centre Drive, Foster City, CA 94404, USA.
12 The Institute for Genomic Research, 9712 Medical Center Drive, Rockville, MD 20850, USA.
13 Faculty of Life Sciences, Bar-Ilan University, Ramat-Gan, 52900 Israel.
14 Grup de Recerca en Informàtica Mèdica, Institut Municipal d'Investigació Mèdica, Universitat Pompeu Fabra, 08003-Barcelona, Catalonia, Spain.
*   To whom correspondence should be addressed. E-mail: humangenome{at}celera.com


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Defining the transcriptome and proteome in three functionally different human cell lines.
E. Lundberg, L. Fagerberg, D. Klevebring, I. Matic, T. Geiger, J. Cox, C. Algenas, J. Lundeberg, M. Mann, and M. Uhlen (2014)
Mol Syst Biol 6, 450
   Abstract »    Full Text »    PDF »
The gene and the genon concept: a functional and information-theoretic analysis.
K. Scherrer and J. Jost (2014)
Mol Syst Biol 3, 87
   Abstract »    Full Text »    PDF »
Synthetic protein-protein interaction domains created by shuffling Cys2His2 zinc-fingers.
A. V. Giesecke, R. Fang, and J. K. Joung (2014)
Mol Syst Biol 2, 2006.0011
   Abstract »    Full Text »    PDF »
Economic Background and Educational Attainment: The Role of Gene-Environment Interactions.
O. Thompson (2014)
J. Human Resources 49, 263-294
   Abstract »    PDF »
The crystal structure of TDP-43 RRM1-DNA complex reveals the specific recognition for UG- and TG-rich nucleic acids.
P.-H. Kuo, C.-H. Chiang, Y.-T. Wang, L. G. Doudeva, and H. S. Yuan (2014)
Nucleic Acids Res. 42, 4712-4722
   Abstract »    Full Text »    PDF »
CpG domains downstream of TSSs promote high levels of gene expression.
S. Krinner, A. P. Heitzer, S. D. Diermeier, I. Obermeier, G. Langst, and R. Wagner (2014)
Nucleic Acids Res. 42, 3551-3564
   Abstract »    Full Text »    PDF »
A Novel Transmembrane Glycoprotein Cancer Biomarker Present in the X Chromosome.
A. P. DELGADO, S. HAMID, P. BRANDAO, and R. NARAYANAN (2014)
Cancer Genomics Proteomics 11, 81-92
   Abstract »    Full Text »    PDF »
Utility of (1-3)-{beta}-D-Glucan Testing for Diagnostics and Monitoring Response to Treatment During the Multistate Outbreak of Fungal Meningitis and Other Infections.
A. P. Litvintseva, M. D. Lindsley, L. Gade, R. Smith, T. Chiller, J. L. Lyons, K. T. Thakur, S. X. Zhang, D. E. Grgurich, T. M. Kerkering, et al. (2014)
Clinical Infectious Diseases 58, 622-630
   Abstract »    Full Text »    PDF »
Mutagenesis and phenotyping resources in zebrafish for studying development and human disease.
G. K. Varshney and S. M. Burgess (2014)
Briefings in Functional Genomics 13, 82-94
   Abstract »    Full Text »    PDF »
Emerging roles of miR-210 and other non-coding RNAs in the hypoxic response.
X. Huang and J. Zuo (2014)
Acta Biochim Biophys Sin 46, 220-232
   Abstract »    Full Text »    PDF »
Gene transcription in the zebrafish embryo: regulators and networks.
M. Ferg, O. Armant, L. Yang, T. Dickmeis, S. Rastegar, and U. Strahle (2014)
Briefings in Functional Genomics 13, 131-143
   Abstract »    Full Text »    PDF »
Prenatal Antidepressant Exposure: Clinical and Preclinical Findings.
C. H. Bourke, Z. N. Stowe, and M. J. Owens (2014)
Pharmacol. Rev. 66, 435-465
   Abstract »    Full Text »    PDF »
High-Resolution Melt PCR Analysis for Genotyping of Ureaplasma parvum Isolates Directly from Clinical Samples.
M. S. Payne, T. Tabone, M. W. Kemp, J. A. Keelan, O. B. Spiller, J. P. Newnham, and K. C. Carroll (2014)
J. Clin. Microbiol. 52, 599-606
   PDF »
The value of resequence data for poultry breeding: A primary layer breeder perspective.
J. E. Fulton (2014)
Poultry Science 93, 494-497
   Abstract »    Full Text »    PDF »
MAKER-P: A Tool Kit for the Rapid Creation, Management, and Quality Control of Plant Genome Annotations.
M. S. Campbell, M. Law, C. Holt, J. C. Stein, G. D. Moghe, D. E. Hufnagel, J. Lei, R. Achawanantakun, D. Jiao, C. J. Lawrence, et al. (2014)
Plant Physiology 164, 513-524
   Abstract »    Full Text »    PDF »
Race, Time and Folded Objects: The HeLa Error.
A. M'charek (2014)
Theory Culture Society
   Abstract »    Full Text »    PDF »
Guidelines for the design, analysis and interpretation of 'omics' data: focus on human endometrium.
S. Altmae, F. J. Esteban, A. Stavreus-Evers, C. Simon, L. Giudice, B. A. Lessey, J. A. Horcajadas, N. S. Macklon, T. D'Hooghe, C. Campoy, et al. (2014)
Hum. Reprod. Update 20, 12-28
   Abstract »    Full Text »    PDF »
The Nature of Nurture: Refining the Definition of the Exposome.
G. W. Miller and D. P. Jones (2014)
Toxicol. Sci. 137, 1-2
   Full Text »    PDF »
Ubiquitylation and activation of a Rab GTPase is promoted by a {beta}2AR-HACE1 complex.
V. Lachance, J. Degrandmaison, S. Marois, M. Robitaille, S. Genier, S. Nadeau, S. Angers, and J.-L. Parent (2014)
J. Cell Sci. 127, 111-123
   Abstract »    Full Text »    PDF »
Moving from the Oslerian paradigm to the post-genomic era: are asthma and COPD outdated terms?.
L. E. G. W. Vanfleteren, J. W. H. Kocks, I. S. Stone, R. Breyer-Kohansal, T. Greulich, D. Lacedonia, R. Buhl, L. M. Fabbri, I. D. Pavord, N. Barnes, et al. (2014)
Thorax 69, 72-79
   Abstract »    Full Text »    PDF »
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia.
T. Zu, Y. Liu, M. Banez-Coronel, T. Reid, O. Pletnikova, J. Lewis, T. M. Miller, M. B. Harms, A. E. Falchook, S. H. Subramony, et al. (2013)
PNAS 110, E4968-E4977
   Abstract »    Full Text »    PDF »
Regulation of Gene Expression in Neurospora crassa with a Copper Responsive Promoter.
T. M. Lamb, J. Vickery, and D. Bell-Pedersen (2013)
g3 3, 2273-2280
   Abstract »    Full Text »    PDF »
Evolution of Vertebrate Transcriptional Regulator Binding.
D. Schmidt (2013)
Science 342, 1186
   Abstract »    Full Text »    PDF »
The Sp185/333 immune response genes and proteins are expressed incells dispersed within all major organs of the adult purple sea urchin.
A. J. Majeske, T. K. Oleksyk, and L. C. Smith (2013)
Innate Immunity 19, 569-587
   Abstract »    Full Text »    PDF »
ABCs of genomics.
S. K. Bohlander (2013)
Hematology 2013, 316-323
   Abstract »    Full Text »    PDF »
Neoclassic Drug Discovery: The Case for Lead Generation Using Phenotypic and Functional Approaches.
J. A. Lee and E. L. Berg (2013)
J Biomol Screen 18, 1143-1155
   Abstract »    Full Text »    PDF »
Perspective on the Discovery and Scientific Impact of p38 MAP Kinase.
P. R. Young (2013)
J Biomol Screen 18, 1156-1163
   Abstract »    Full Text »    PDF »
Novel insights from genetic and epigenetic studies in understanding the complex uraemic phenotype.
A. Witasp, T. J. Ekstrom, B. Lindholm, P. Stenvinkel, M. Schalling, and L. Nordfors (2013)
Nephrol. Dial. Transplant.
   Abstract »    Full Text »    PDF »
Massively parallel sequencing: the new frontier of hematologic genomics.
J. M. Johnsen, D. A. Nickerson, and A. P. Reiner (2013)
Blood 122, 3268-3275
   Abstract »    Full Text »    PDF »
Human pain and genetics: some basics.
S. James (2013)
British Journal of Pain 7, 171-178
   Abstract »    Full Text »    PDF »
The MaSuRCA genome assembler.
A. V. Zimin, G. Marcais, D. Puiu, M. Roberts, S. L. Salzberg, and J. A. Yorke (2013)
Bioinformatics 29, 2669-2677
   Abstract »    Full Text »    PDF »
De novo identification of VRC01 class HIV-1-neutralizing antibodies by next-generation sequencing of B-cell transcripts.
J. Zhu, X. Wu, B. Zhang, K. McKee, S. O'Dell, C. Soto, T. Zhou, J. P. Casazza, NISC Comparative Sequencing Program, J. C. Mullikin, et al. (2013)
PNAS 110, E4088-E4097
   Abstract »    Full Text »    PDF »
Punctuated Emergences of Genetic and Phenotypic Innovations in Eumetazoan, Bilaterian, Euteleostome, and Hominidae Ancestors.
Y. Wenger and B. Galliot (2013)
Genome Biol Evol 5, 1949-1968
   Abstract »    Full Text »    PDF »
Identification of cis-regulatory modules in promoters of human genes exploiting mutual positioning of transcription factors.
S. Nandi, A. Blais, and I. Ioshikhes (2013)
Nucleic Acids Res. 41, 8822-8841
   Abstract »    Full Text »    PDF »
Joint haplotype phasing and genotype calling of multiple individuals using haplotype informative reads.
K. Zhang and D. Zhi (2013)
Bioinformatics 29, 2427-2434
   Abstract »    Full Text »    PDF »
Isochores and the Regulation of Gene Expression in the Human Genome.
S. Arhondakis, F. Auletta, and G. Bernardi (2013)
Genome Biol Evol 3, 1080-1089
   Abstract »    Full Text »    PDF »
Next-generation sequencing technologies and their impact on microbial genomics.
B. M. Forde and P. W. O'Toole (2013)
Briefings in Functional Genomics 12, 440-453
   Abstract »    Full Text »    PDF »
Evolutionarily conserved long intergenic non-coding RNAs in the eye.
D. Mustafi, B. M. Kevany, X. Bai, T. Maeda, J. E. Sears, A. M. Khalil, and K. Palczewski (2013)
Hum. Mol. Genet. 22, 2992-3002
   Abstract »    Full Text »    PDF »
High-Throughput Sequencing Reveals Principles of Adeno-Associated Virus Serotype 2 Integration.
T. Janovitz, I. A. Klein, T. Oliveira, P. Mukherjee, M. C. Nussenzweig, M. Sadelain, and E. Falck-Pedersen (2013)
J. Virol. 87, 8559-8568
   Abstract »    Full Text »    PDF »
Comparative genomics as a tool to understand evolution and disease.
J. Alfoldi and K. Lindblad-Toh (2013)
Genome Res. 23, 1063-1068
   Abstract »    Full Text »    PDF »
Understanding the regulatory and transcriptional complexity of the genome through structure.
T. R. Mercer and J. S. Mattick (2013)
Genome Res. 23, 1081-1088
   Abstract »    Full Text »    PDF »
Detection of Statin Cytotoxicity Is Increased in Cells Expressing the OATP1B1 Transporter.
X. Zhang, R. J. Scialis, B. Feng, and K. Leach (2013)
Toxicol. Sci. 134, 73-82
   Abstract »    Full Text »    PDF »
First Draft Genome Sequence from a Member of the Genus Agrococcus, Isolated from Modern Microbialites.
R. A. White III, C. J. Grassa, and C. A. Suttle (2013)
Genome Announc 1, e00391-13
   Abstract »    Full Text »    PDF »
Integrated platform for genome-wide screening and construction of high-density genetic interaction maps in mammalian cells.
M. Kampmann, M. C. Bassik, and J. S. Weissman (2013)
PNAS 110, E2317-E2326
   Abstract »    Full Text »    PDF »
Assembling the 20 Gb white spruce (Picea glauca) genome from whole-genome shotgun sequencing data.
I. Birol, A. Raymond, S. D. Jackman, S. Pleasance, R. Coope, G. A. Taylor, M. M. S. Yuen, C. I. Keeling, D. Brand, B. P. Vandervalk, et al. (2013)
Bioinformatics 29, 1492-1497
   Abstract »    Full Text »    PDF »
Overview of High Throughput Sequencing Technologies to Elucidate Molecular Pathways in Cardiovascular Diseases.
J. M. Churko, G. L. Mantalas, M. P. Snyder, and J. C. Wu (2013)
Circ. Res. 112, 1613-1623
   Abstract »    Full Text »    PDF »
Studying Recombination with High-Throughput Sequencing: An Educational Primer for Use with "Fine-Scale Heterogeneity in Crossover Rate in the garnet-scalloped Region of the Drosophila melanogaster X chromosome".
C. S. S. Heil and M. A. F. Noor (2013)
Genetics 194, 335-339
   Abstract »    Full Text »    PDF »
Existing and Emerging Technologies for Tumor Genomic Profiling.
L. E. MacConaill (2013)
J. Clin. Oncol. 31, 1815-1824
   Abstract »    Full Text »    PDF »
Personalizing Oncology: Perspectives and Prospects.
J. Mendelsohn (2013)
J. Clin. Oncol. 31, 1904-1911
   Abstract »    Full Text »    PDF »
Characterizing TDP-43 interaction with its RNA targets.
A. Bhardwaj, M. P. Myers, E. Buratti, and F. E. Baralle (2013)
Nucleic Acids Res. 41, 5062-5074
   Abstract »    Full Text »    PDF »
A KRAB/KAP1-miRNA Cascade Regulates Erythropoiesis Through Stage-Specific Control of Mitophagy.
I. Barde, B. Rauwel, R. M. Marin-Florez, A. Corsinotti, E. Laurenti, S. Verp, S. Offner, J. Marquis, A. Kapopoulou, J. Vanicek, et al. (2013)
Science 340, 350-353
   Abstract »    Full Text »    PDF »
Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts.
K. B. Gagnon and E. Delpire (2013)
Am J Physiol Cell Physiol 304, C693-C714
   Abstract »    Full Text »    PDF »
Conserved non-coding elements and cis regulation: actions speak louder than words.
A. C. Nelson and F. C. Wardle (2013)
Development 140, 1385-1395
   Abstract »    Full Text »    PDF »
On the Immortality of Television Sets: "Function" in the Human Genome According to the Evolution-Free Gospel of ENCODE.
D. Graur, Y. Zheng, N. Price, R. B. R. Azevedo, R. A. Zufall, and E. Elhaik (2013)
Genome Biol Evol 5, 578-590
   Abstract »    Full Text »    PDF »
Integrative genomics in cardiovascular medicine.
J. S. Ware, E. Petretto, and S. A. Cook (2013)
Cardiovasc Res 97, 623-630
   Abstract »    Full Text »    PDF »
Rat mir-155 generated from the lncRNA Bic is 'hidden' in the alternate genomic assembly and reveals the existence of novel mammalian miRNAs and clusters.
P. Uva, L. Da Sacco, M. Del Corno, A. Baldassarre, P. Sestili, M. Orsini, A. Palma, S. Gessani, and A. Masotti (2013)
RNA 19, 365-379
   Abstract »    Full Text »    PDF »
Hawkeye and AMOS: visualizing and assessing the quality of genome assemblies.
M. C. Schatz, A. M. Phillippy, D. D. Sommer, A. L. Delcher, D. Puiu, G. Narzisi, S. L. Salzberg, and M. Pop (2013)
Brief Bioinform 14, 213-224
   Abstract »    Full Text »    PDF »
Signaling and Transcriptional Networks in Heart Development and Regeneration.
B. G. Bruneau (2013)
Cold Spring Harb Perspect Biol 5, a008292
   Abstract »    Full Text »    PDF »
Accurate Identification and Analysis of Human mRNA Isoforms Using Deep Long Read Sequencing.
H. Tilgner, D. Raha, L. Habegger, M. Mohiuddin, M. Gerstein, and M. Snyder (2013)
g3 3, 387-397
   Abstract »    Full Text »    PDF »
Application of a new wall-less plate technology to complex multistep cell-based investigations using suspension cells.
G. A. Quinones, T. I. Moore, K. Nicholes, H. Lee, S. Kim, L. Sun, N. L. Jeon, and J.-P. Stephan (2013)
Blood 121, e25-e33
   Abstract »    Full Text »    PDF »
Next-generation sequencing: The future of molecular genetics in poultry production and food safety.
S. Diaz-Sanchez, I. Hanning, S. Pendleton, and D. D'Souza (2013)
Poultry Science 92, 562-572
   Abstract »    Full Text »    PDF »
The elongation rate of RNA polymerase II in zebrafish and its significance in the somite segmentation clock.
A. Hanisch, M. V. Holder, S. Choorapoikayil, M. Gajewski, E. M. Ozbudak, and J. Lewis (2013)
Development 140, 444-453
   Abstract »    Full Text »    PDF »
Current Literature.
B. L. Pihlstrom (2013)
J Am Dent Assoc 144, 61-64
   Abstract »    Full Text »    PDF »
Myo9b and RICS Modulate Dendritic Morphology of Cortical Neurons.
H. Long, X. Zhu, P. Yang, Q. Gao, Y. Chen, and L. Ma (2013)
Cereb Cortex 23, 71-79
   Abstract »    Full Text »    PDF »
PANTHER in 2013: modeling the evolution of gene function, and other gene attributes, in the context of phylogenetic trees.
H. Mi, A. Muruganujan, and P. D. Thomas (2013)
Nucleic Acids Res. 41, D377-D386
   Abstract »    Full Text »    PDF »
PBSIM: PacBio reads simulator--toward accurate genome assembly.
Y. Ono, K. Asai, and M. Hamada (2013)
Bioinformatics 29, 119-121
   Abstract »    Full Text »    PDF »
A Genome-Wide Perspective of Human Diversity and Its Implications in Infectious Disease.
J. Manry and L. Quintana-Murci (2013)
Cold Spring Harb Perspect Med 3, a012450
   Abstract »    Full Text »    PDF »
A Clinical Approach to a Family History of Sudden Death.
B. Y. Tan and D. P. Judge (2012)
Circ Cardiovasc Genet 5, 697-705
   Full Text »    PDF »
ASGARD: an open-access database of annotated transcriptomes for emerging model arthropod species.
V. Zeng and C. G. Extavour (2012)
Database 2012, bas048
   Abstract »    Full Text »    PDF »
Paired-end sequencing of Fosmid libraries by Illumina.
L. J. S. Williams, D. G. Tabbaa, N. Li, A. M. Berlin, T. P. Shea, I. MacCallum, M. S. Lawrence, Y. Drier, G. Getz, S. K. Young, et al. (2012)
Genome Res. 22, 2241-2249
   Abstract »    Full Text »    PDF »
Translating genomic information into clinical medicine: Lung cancer as a paradigm.
M. A. Levy, C. M. Lovly, and W. Pao (2012)
Genome Res. 22, 2101-2108
   Abstract »    Full Text »    PDF »
Neutralizing the function of a {beta}-globin-associated cis-regulatory DNA element using an artificial zinc finger DNA-binding domain.
J. J. Barrow, J. Masannat, and J. Bungert (2012)
PNAS 109, 17948-17953
   Abstract »    Full Text »    PDF »
Human Endogenous Retrovirus K Gag Coassembles with HIV-1 Gag and Reduces the Release Efficiency and Infectivity of HIV-1.
K. Monde, R. Contreras-Galindo, M. H. Kaplan, D. M. Markovitz, and A. Ono (2012)
J. Virol. 86, 11194-11208
   Abstract »    Full Text »    PDF »
NEI Audacious Goals Initiative to Catalyze Innovation.
P. A. Sieving (2012)
Invest. Ophthalmol. Vis. Sci. 53, 7149-7150
   Full Text »    PDF »
Molecular Physiology of SPAK and OSR1: Two Ste20-Related Protein Kinases Regulating Ion Transport.
K. B. Gagnon and E. Delpire (2012)
Physiol Rev 92, 1577-1617
   Abstract »    Full Text »    PDF »
The Search for Genetic Modifiers of Disease Severity in the {beta}-Hemoglobinopathies.
G. Lettre (2012)
Cold Spring Harb Perspect Med 2, a015032
   Abstract »    Full Text »    PDF »
Uncovering Transcription Factor Modules Using One- and Three-dimensional Analyses.
(2012)
J. Biol. Chem. 287, 30914-30921

To Advertise     Find Products


Science Signaling. ISSN 1937-9145 (online), 1945-0877 (print). Pre-2008: Science's STKE. ISSN 1525-8882