The DOI matches its Crossref record; 458 of the 458 references it cites were found in a registry or an index.
Initial sequencing and analysis of the human genome
Open accessAbstract
The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The cited source doesn’t support the claim as written.
In the citing paper
“Together, LINEs and SINEs account for 40–50% of human DNA (85).”
From The Discovery of Reverse Transcriptase (2016) · cites this paper as [85]
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredThe cited source doesn’t support the claim as written.
In the citing paper
“TEs also tend to be among the most lineage-specific, i.e. recently evolved, sequences in the human genome [45].”
From A Family of Human MicroRNA Genes from Miniature Inverted-Repeat Transposable Elements (2007) · cites this paper as [45]
Checked by a reasoning model — may be wrong.
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“For instance, ∼8% of the human genome is made up of endogenous retroviral DNA—more than the DNA that encodes proteins (85).”
From The Discovery of Reverse Transcriptase (2016) · cites this paper as [85]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“For example, retrotransposons comprise at least 60% of the human genome [3] and results presented here and elsewhere [34] suggest that the number of endogenous retroviruses in chimpanzees may be higher than in humans.”
From Identification, characterization and comparative genomics of chimpanzee endogenous retroviruses (2006) · cites this paper as [3]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The human reference genome has formed the backbone of human genomics since its initial draft release more than 20 years ago2.”
From A draft human pangenome reference. (2023) · cites this paper as [2]
Experimental — accuracy not yet measured
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The human genome includes genes for 57 cytochrome P450 enzymes (47,48).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [48]
Experimental — accuracy not yet measuredIn the citing paper
“Completion of the draft human genome sequence1 reduced many of the obstacles to disease-gene mapping and propelled a fourfold increase in the genes implicated as causal for rare, single-gene disorders (Fig. 1).”
From A brief history of human disease genetics (2020) · cites this paper as [1]
In the citing paper
“gave way to culture-independent molecular approaches allowing us to not only identify and characterize microbial communities based on similarities in DNA sequences, but also provide knowledge that has significantly improved our ability culture bacteria that were previously considered unculturable6.”
From The gut Microbiome in adult and pediatric functional gastrointestinal disorders (2019) · cites this paper as [4]
In the citing paper
“Indeed, the human genome project has made it clear that nearly 99% of the human genome does not encode proteins and that the approximately 21,000 human protein-coding genes are in general surprisingly similar across placental mammals (Lander, 2011; Lander et al., 2001; Venter et al., 2001).”
From Genetic Changes Shaping the Human Brain (2015) · cites this paper as Lander et al., 2001
In the citing paper
“Resveratrol has been found to inhibit retrotransposition of Long Interspersed Nuclear Element-1 (LINE-1), comprising cca 17% of the human genome (Lander et al. 2001), which in turn is related to SIRT6 and SIRT7.”
From Reactive Oxygen Species, Toxicity, Oxidative Stress, and Antioxidants: Chronic Diseases and Aging (2023) · cites this paper as Lander et al. 2001
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Gapped BLAST and PSI-BLAST: a new generation of protein database search programs
Altschul, S. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.17.3389 · Cited by 73,302
The Pfam Protein Families Database
Bateman, A. G. (2002) · Nucleic Acids Research · doi:10.1093/nar/30.1.276 · Cited by 14,075
Self-citationThe sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909
Identification of common molecular subsequences
Smith, T. F., & Waterman, M. S. (1981) · Journal of Molecular Biology · doi:10.1016/0022-2836(81)90087-5 · Cited by 9,962
Sequence and organization of the human mitochondrial genome
Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., et al. (1981) · Nature · doi:10.1038/290457a0 · Cited by 9,740
Self-citationConstruction of a genetic linkage map in man using restriction fragment length polymorphisms.
Botstein, D., White, R. L., Skolnick, M. H., & Davis, R. W. (1980) · Europe PMC (PubMed Central) · Cited by 8,327
Self-citationA new method for sequencing DNA.
Maxam, A. M., & Gilbert, W. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.2.560 · Cited by 7,929
Ohno, S. (1970) · doi:10.1007/978-3-642-86659-3 · Cited by 7,833
Base-Calling of Automated Sequencer Traces Using Phred. I. Accuracy AssessmentPreprint
Ewing, B., Hillier, L., Wendl, M. C., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.175 · Cited by 6,993
Self-citationWhole-Genome Random Sequencing and Assembly of Haemophilus influenzae Rd
Fleischmann, R. D., Adams, M. D., White, O. R., Clayton, R. A., Kirkness, E. F., Kerlavage, A. R., Bult, C. J., Tomb, J.-F., Dougherty, B. A., Merrick, J. M., et al. (1995) · Science · doi:10.1126/science.7542800 · Cited by 5,731
Self-citation
Flagged first, then by citations
Research works printed but not linked: 7
- De Vries, H. Sur la loie de disjonction des hybrides. Comptes Rendue Hebdemodaires, Acad. Sci. Paris 130, 845–847 (1900).
- Bishop, J. E. & Waldholz, M. Genome (Simon and Schuster, New York, 1990).
- Li, W. -H. Molecular Evolution (Sinauer, Sunderland, Massachusetts, 1997).
- Lewin, B. Gene Expression (Wiley, New York, 1980).
- Lewin, B. Genes IV 466–481 (Oxford Univ. Press, Oxford, 1990).
- Saunders, A. J., Kim, T. -W. & Tanzi, R. E. BACE maps to chromosome 11 and a BACE homolog, BACE2, reside in the obligate Down Syndrome region of chromosome 21. Science 286, 1255a (1999). · DOI
- Eliot, T. S. in T. S. Eliot. Collected Poems 1909–1962 (Harcourt Brace, New York, 1963).
Cited by
Sorted by citations
Items 301–400 of 493
Distinct enzyme combinations in AKAP signalling complexes permit functional diversity
Hoshi, N., Langeberg, L. K., & Scott, J. D. (2005) · Nature Cell Biology · doi:10.1038/ncb1315 · Cited by 183
A psychology of the human brain-gut-microbiome axis
Allen, A. P., Dinan, T. G., Clarke, G., & Cryan, J. F. (2017) · Social and Personality Psychology Compass · doi:10.1111/spc3.12309 · Cited by 174
Panda, A., de Cubas, A. A., Stein, M., Riedlinger, G., Kra, J., Mayer, T., Smith, C. C., Vincent, B. G., Serody, J. S., Beckermann, K. E., et al. (2018) · JCI Insight · doi:10.1172/jci.insight.121522 · Cited by 181
Protein Homeostasis and the Phenotypic Manifestation of Genetic Diversity: Principles and Mechanisms
Jarosz, D. F., Taipale, M., & Lindquist, S. (2010) · Annual Review of Genetics · doi:10.1146/annurev.genet.40.110405.090412 · Cited by 179
CHORLEY, B., WANG, X., CAMPBELL, M., PITTMAN, G., NOUREDDINE, M., & BELL, D. (2008) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2008.05.001 · Cited by 177
An RB-EZH2 Complex Mediates Silencing of Repetitive DNA Sequences
Ishak, C. A., Marshall, A. E., Passos, D. T., White, C. R., Kim, S. J., Cecchini, M. J., Ferwati, S., MacDonald, W. A., Howlett, C. J., Welch, I. D., et al. (2016) · Molecular Cell · doi:10.1016/j.molcel.2016.10.021 · Cited by 167
Computational challenges in the analysis of ancient DNA
Prüfer, K., Stenzel, U., Hofreiter, M., Pääbo, S., Kelso, J., & Green, R. E. (2010) · Genome Biology · doi:10.1186/gb-2010-11-5-r47 · Cited by 155
“By using only the increasingly more distantly related genome sequences of human [27], chimpanzee [28], orangutan, rhesus macaque [29], mouse lemur, bushbaby and mouse [30], we gauge how many Neandertal sequences could be identified if each of these genomes was the only one that was available.”
Swaroop, A., Branham, K. E., Chen, W., & Abecasis, G. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm212 · Cited by 173
Multiple waves of recent DNA transposon activity in the bat, Myotis lucifugus
Ray, D. A., Feschotte, C., Pagan, H. J. T., Smith, J. D., Pritham, E. J., Arensburger, P., Atkinson, P. W., & Craig, N. L. (2008) · Genome Research · doi:10.1101/gr.071886.107 · Cited by 165
Hannan, A. J. (2010) · Trends in Genetics · doi:10.1016/j.tig.2009.11.008 · Cited by 156
piRNA-mediated transgenerational inheritance of an acquired trait
Grentzinger, T., Armenise, C., Brun, C., Mugat, B., Serrano, V., Pelisson, A., & Chambeyron, S. (2012) · Genome Research · doi:10.1101/gr.136614.111 · Cited by 162
Integrative genomic analysis of human ribosomal DNA
Zentner, G. E., Saiakhova, A., Manaenkov, P., Adams, M. D., & Scacheri, P. C. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkq1326 · Cited by 165
Sultana, T., van Essen, D., Siol, O., Bailly-Bechet, M., Philippe, C., Zine El Aabidine, A., Pioger, L., Nigumann, P., Saccani, S., Andrau, J.-C., et al. (2019) · Molecular Cell · doi:10.1016/j.molcel.2019.02.036 · Cited by 154
Modular Assembly of Genes and the Evolution of New Functions
Patthy, L. (2003) · Genetica · doi:10.1023/a:1024182432483 · Cited by 166
The gut Microbiome in adult and pediatric functional gastrointestinal disorders
Shin, A., Preidis, G. A., Shulman, R., & Kashyap, P. C. (2019) · Clinical Gastroenterology and Hepatology · doi:10.1016/j.cgh.2018.08.054 · Cited by 163
Holman, A. G., & Coffin, J. M. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0501646102 · Cited by 164
Genetic variant effects on gene expression in human pancreatic islets and their implications for T2D
Viñuela, A., Varshney, A., van de Bunt, M., Prasad, R. B., Asplund, O., Bennett, A., Boehnke, M., Brown, A. A., Erdos, M. R., Fadista, J., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-18581-8 · Cited by 152
Self-citationLong-Read DNA Sequencing: Recent Advances and Remaining Challenges
Warburton, P. E., & Sebra, R. P. (2023) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-101722-103045 · Cited by 163
Bourque, G., Zdobnov, E. M., Bork, P., Pevzner, P. A., & Tesler, G. (2005) · Genome Research · doi:10.1101/gr.3002305 · Cited by 162
Ching, T.-T., Maunakea, A. K., Jun, P., Hong, C., Zardo, G., Pinkel, D., Albertson, D. G., Fridlyand, J., Mao, J.-H., Shchors, K., et al. (2005) · Nature Genetics · doi:10.1038/ng1563 · Cited by 159
LINE-1 protein localization and functional dynamics during the cell cycle
Mita, P., Wudzinska, A., Sun, X., Andrade, J., Nayak, S., Kahler, D. J., Badri, S., LaCava, J., Ueberheide, B., Yun, C. Y., et al. (2018) · eLife · doi:10.7554/elife.30058 · Cited by 142
Rübe, C. E., Grudzenski, S., Kühne, M., Dong, X., Rief, N., Löbrich, M., & Rübe, C. (2008) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-07-5147 · Cited by 158
Panchaud, A., Affolter, M., & Kussmann, M. (2012) · Journal of Proteomics · doi:10.1016/j.jprot.2011.12.022 · Cited by 159
Demir, E., Babur, O., Dogrusoz, U., Gursoy, A., Nisanci, G., Cetin-Atalay, R., & Ozturk, M. (2002) · Bioinformatics · doi:10.1093/bioinformatics/18.7.996 · Cited by 156
Trends in protein evolution inferred from sequence and structure analysis
Aravind, L., Mazumder, R., Vasudevan, S., & Koonin, E. V. (2002) · Current Opinion in Structural Biology · doi:10.1016/s0959-440x(02)00334-2 · Cited by 148
Self-citationHahn, M. E., Karchner, S. I., Evans, B. R., Franks, D. G., Merson, R. R., & Lapseritis, J. M. (2006) · Journal of Experimental Zoology Part A: Comparative Experimental Biology · doi:10.1002/jez.a.323 · Cited by 153
A detailed genome-wide reconstruction of mouse metabolism based on human Recon 1
Sigurdsson, M. I., Jamshidi, N., Steingrimsson, E., Thiele, I., & Palsson, B. Ø. (2010) · BMC Systems Biology · doi:10.1186/1752-0509-4-140 · Cited by 154
Phylogenetic Reconstruction of Orthology, Paralogy, and Conserved Synteny for Dog and Human
Goodstadt, L., & Ponting, C. P. (2006) · PLoS Computational Biology · doi:10.1371/journal.pcbi.0020133 · Cited by 154
Evolutionary dynamics of transposable elements in the short-tailed opossum Monodelphis domestica
Gentles, A. J., Wakefield, M. J., Kohany, O., Gu, W., Batzer, M. A., Pollock, D. D., & Jurka, J. (2007) · Genome Research · doi:10.1101/gr.6070707 · Cited by 156
Development of an in vitro human liver system for interrogating nonalcoholic steatohepatitis
Feaver, R. E., Cole, B. K., Lawson, M. J., Hoang, S. A., Marukian, S., Blackman, B. R., Figler, R. A., Sanyal, A. J., Wamhoff, B. R., & Dash, A. (2016) · JCI Insight · doi:10.1172/jci.insight.90954 · Cited by 153
Barabas, O., Ronning, D. R., Guynet, C., Hickman, A. B., Ton-Hoang, B., Chandler, M., & Dyda, F. (2008) · Cell · doi:10.1016/j.cell.2007.12.029 · Cited by 143
The modular logic of signaling proteins: building allosteric switches from simple binding domains
Lim, W. A. (2002) · Current Opinion in Structural Biology · doi:10.1016/s0959-440x(02)00290-7 · Cited by 151
Hampel, H., O’Bryant, S. E., Durrleman, S., Younesi, E., Rojkova, K., Escott-Price, V., Corvol, J.-C., Broich, K., Dubois, B., Lista, S., et al. (2017) · Climacteric · doi:10.1080/13697137.2017.1287866 · Cited by 147
Mutation Type Is Not Clinically Useful in Predicting Prognosis in Hypertrophic Cardiomyopathy
Landstrom, A. P., & Ackerman, M. J. (2010) · Circulation · doi:10.1161/circulationaha.110.954446 · Cited by 146
LINE dancing in the human genome: transposable elements and disease
Belancio, V. P., Deininger, P. L., & Roy-Engel, A. M. (2009) · Genome Medicine · doi:10.1186/gm97 · Cited by 146
Genetic Changes Shaping the Human Brain
Bae, B.-I., Jayaraman, D., & Walsh, C. A. (2015) · Developmental Cell · doi:10.1016/j.devcel.2015.01.035 · Cited by 135
Lemay, D. G., & Hwang, D. H. (2006) · Journal of Lipid Research · doi:10.1194/jlr.m500504-jlr200 · Cited by 143
Long interspersed nuclear element-1 hypomethylation in cancer: biology and clinical applications
Kitkumthorn, N., & Mutirangura, A. (2011) · Clinical Epigenetics · doi:10.1007/s13148-011-0032-8 · Cited by 142
Hasegawa, H., Mizoguchi, I., Chiba, Y., Ohashi, M., Xu, M., & Yoshimoto, T. (2016) · Frontiers in Immunology · doi:10.3389/fimmu.2016.00479 · Cited by 142
Human endogenous retrovirus HERV-K113 is capable of producing intact viral particles
Boller, K., Schönfeld, K., Lischer, S., Fischer, N., Hoffmann, A., Kurth, R., & Tönjes, R. R. (2008) · Journal of General Virology · doi:10.1099/vir.0.83534-0 · Cited by 138
Gene expression profiling of replicative and induced senescence
Purcell, M., Kruger, A., & Tainsky, M. A. (2014) · Cell Cycle · doi:10.4161/15384101.2014.973327 · Cited by 132
Our Conflict with Transposable Elements and Its Implications for Human Disease
Burns, K. H. (2020) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathmechdis-012419-032633 · Cited by 137
SCNM1, a Putative RNA Splicing Factor That Modifies Disease Severity in Mice
Buchner, D. A., Trudeau, M., & Meisler, M. H. (2003) · Science · doi:10.1126/science.1086187 · Cited by 137
Recombination between heterologous human acrocentric chromosomes
Guarracino, A., Buonaiuto, S., de Lima, L. G., Potapova, T., Rhie, A., Koren, S., Rubinstein, B., Fischer, C., Human Pangenome Reference Consortium, Abel, H. J., et al. (2023) · Nature · doi:10.1038/s41586-023-05976-y · Cited by 134
Self-citationPresnell, J. S., Schnitzler, C. E., & Browne, W. E. (2015) · Genome Biology and Evolution · doi:10.1093/gbe/evv141 · Cited by 119
Sagoo, G. S., Tatt, I., Salanti, G., Butterworth, A. S., Sarwar, N., van Maarle, M., Jukema, J. W., Wiman, B., Kastelein, J. J. P., Bennet, A. M., et al. (2008) · American Journal of Epidemiology · doi:10.1093/aje/kwn235 · Cited by 132
Brosch, M., Saunders, G. I., Frankish, A., Collins, M. O., Yu, L., Wright, J., Verstraten, R., Adams, D. J., Harrow, J., Choudhary, J. S., et al. (2011) · Genome Research · doi:10.1101/gr.114272.110 · Cited by 130
Self-citationDomagal-Goldman, S. D., Wright, K. E., Domagal-Goldman, S. D., Wright, K. E., Adamala, K., Arina de la Rubia, L., Bond, J., Dartnell, L. R., Goldman, A. D., Lynch, K., et al. (2016) · Astrobiology · doi:10.1089/ast.2015.1460 · Cited by 136
“About 40% of the human genome is composed of transposons (Lander et al., 2001).”
T Cell Responses to Human Endogenous Retroviruses in HIV-1 Infection
Garrison, K. E., Jones, R. B., Meiklejohn, D. A., Anwar, N., Ndhlovu, L. C., Chapman, J. M., Erickson, A. L., Agrawal, A., Spotts, G., Hecht, F. M., et al. (2007) · PLoS Pathogens · doi:10.1371/journal.ppat.0030165 · Cited by 131
Dai, L., Huang, Q., & Boeke, J. D. (2011) · BMC Biochemistry · doi:10.1186/1471-2091-12-18 · Cited by 131
Robotic cloning and protein production platform of the northeast structural genomics consortium
Acton, T. B., Gunsalus, K. C., Xiao, R., Ma, L. C., Aramini, J., Baran, M. C., Chiang, Y.-W., Climent, T., Cooper, B., Denissova, N. G., et al. (2005) · Methods in Enzymology · doi:10.1016/s0076-6879(05)94008-1 · Cited by 129
A Human-Specific De Novo Protein-Coding Gene Associated with Human Brain Functions
Li, C.-Y., Zhang, Y., Wang, Z., Zhang, Y., Cao, C., Zhang, P.-W., Lu, S.-J., Li, X.-M., Yu, Q., Zheng, X., et al. (2010) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1000734 · Cited by 130
Future of genetics of mood disorders research
Merikangas, K. R., Chakravarti, A., Moldin, S. O., Araj, H., Blangero, J., Burmeister, M., Crabbe, J. C., Depaulo, J. R., Foulks, E., Freimer, N. B., et al. (2002) · Biological Psychiatry · doi:10.1016/s0006-3223(02)01471-3 · Cited by 128
Discovery and mass spectrometric analysis of novel splice-junction peptides using RNA-Seq
Sheynkman, G. M., Shortreed, M. R., Frey, B. L., & Smith, L. M. (2013) · Molecular & Cellular Proteomics · doi:10.1074/mcp.o113.028142 · Cited by 128
The flamenco Locus Controls the gypsy and ZAM Retroviruses and Is Required for Drosophila Oogenesis
Mével-Ninio, M., Pelisson, A., Kinder, J., Campos, A. R., & Bucheton, A. (2007) · Genetics · doi:10.1534/genetics.106.068106 · Cited by 128
Androgen synthesis in adrenarche
Miller, W. L. (2009) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-008-9102-4 · Cited by 127
Genome-wide de novo L1 Retrotransposition Connects Endonuclease Activity with Replication
Flasch, D. A., Macia, Á., Sánchez, L., Ljungman, M., Heras, S. R., García-Pérez, J. L., Wilson, T. E., & Moran, J. V. (2019) · Cell · doi:10.1016/j.cell.2019.02.050 · Cited by 127
Comparative studies of de novo assembly tools for next-generation sequencing technologies
Lin, Y., Li, J., Shen, H., Zhang, L., Papasian, C. J., & Deng, H. (2011) · Bioinformatics · doi:10.1093/bioinformatics/btr319 · Cited by 126
Onco-exaptation of an endogenous retroviral LTR drives IRF5 expression in Hodgkin lymphoma
Babaian, A., Romanish, M. T., Gagnier, L., Kuo, L. Y., Karimi, M. M., Steidl, C., & Mager, D. L. (2016) · Oncogene · doi:10.1038/onc.2015.308 · Cited by 121
Towards precision medicine: advances in computational approaches for the analysis of human variants
Peterson, T. A., Doughty, E., & Kann, M. G. (2013) · Journal of Molecular Biology · doi:10.1016/j.jmb.2013.08.008 · Cited by 123
Kampmann, M., Bassik, M. C., & Weissman, J. S. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1307002110 · Cited by 123
Molecular mechanisms mediated by human endogenous retroviruses (HERVs) in autoimmunity
Balada, E., Ordi‐Ros, J., & Vilardell‐Tarrés, M. (2009) · Reviews in Medical Virology · doi:10.1002/rmv.622 · Cited by 122
A simple plan-Cnidarians and the origins of developmental mechanisms
Ball, E. E., Hayward, D. C., Saint, R., & Miller, D. J. (2004) · Nature Reviews Genetics · doi:10.1038/nrg1402 · Cited by 123
Human Proteome Project Mass Spectrometry Data Interpretation Guidelines 3.0
Deutsch, E. W., Lane, L., Overall, C. M., Bandeira, N., Baker, M. S., Pineau, C., Moritz, R. L., Corrales, F., Orchard, S., Van Eyk, J. E., et al. (2019) · Journal of Proteome Research · doi:10.1021/acs.jproteome.9b00542 · Cited by 122
Evidence consistent with human L1 retrotransposition in maternal meiosis I
Brouha, B., Meischl, C., Ostertag, E., de Boer, M., Zhang, Y., Neijens, H., Roos, D., & Kazazian, H. H. (2002) · The American Journal of Human Genetics · doi:10.1086/341722 · Cited by 122
Prenatal maternal immune activation causes epigenetic differences in adolescent mouse brain
Basil, P., Li, Q., Dempster, E. L., Mill, J., Sham, P.-C., Wong, C. C. Y., & McAlonan, G. M. (2014) · Translational Psychiatry · doi:10.1038/tp.2014.80 · Cited by 116
Activation of human endogenous retroviruses and its physiological consequences
Dopkins, N., & Nixon, D. F. (2024) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-023-00674-z · Cited by 122
Wu, D.-D., Irwin, D. M., & Zhang, Y.-P. (2008) · BMC Evolutionary Biology · doi:10.1186/1471-2148-8-241 · Cited by 121
Characterizing the mouse ES cell transcriptome with Illumina sequencing
Rosenkranz, R., Borodina, T., Lehrach, H., & Himmelbauer, H. (2008) · Genomics · doi:10.1016/j.ygeno.2008.05.011 · Cited by 106
Self-citationSomatic Mutagenesis in Mammals and Its Implications for Human Disease and Aging
Zhang, L., & Vijg, J. (2018) · Annual Review of Genetics · doi:10.1146/annurev-genet-120417-031501 · Cited by 108
Introduction: addressing the millennial morbidity—the context of community pediatrics.
Palfrey, J. S., Tonniges, T. F., Green, M., & Richmond, J. (2005) · Pediatrics · doi:10.1542/peds.2004-2825b · Cited by 110
Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment
parker, J., O'Brien, C., Hawrelak, J., & Gersh, F. (2021) · doi:10.20944/preprints202112.0088.v1 · Cited by 113
Zingler, N., Willhoeft, U., Brose, H.-P., Schoder, V., Jahns, T., Hanschmann, K.-M. O., Morrish, T. A., Löwer, J., & Schumann, G. G. (2005) · Genome Research · doi:10.1101/gr.3421505 · Cited by 111
Characterization and in Vivo Functional Analysis of Splice Variants of Cypher
Huang, C., Zhou, Q., Liang, P., Hollander, M. S., Sheikh, F., Li, X., Greaser, M., Shelton, G. D., Evans, S., & Chen, J. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m211875200 · Cited by 105
Nakaoka, H., & Inoue, I. (2009) · Journal of Human Genetics · doi:10.1038/jhg.2009.95 · Cited by 111
Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment
Parker, J., O’Brien, C., Hawrelak, J., & Gersh, F. L. (2022) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph19031336 · Cited by 114
The NF1 Gene Contains Hotspots for L1 Endonuclease-Dependent De Novo Insertion
Wimmer, K., Callens, T., Wernstedt, A., & Messiaen, L. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002371 · Cited by 107
Hold out the genome: a roadmap to solving the cis-regulatory code
de Boer, C. G., & Taipale, J. (2024) · Nature · doi:10.1038/s41586-023-06661-w · Cited by 107
Neuroinflammation in the Aging Down Syndrome Brain; Lessons from Alzheimer's Disease
Wilcock, D. M. (2012) · Current Gerontology and Geriatrics Research · doi:10.1155/2012/170276 · Cited by 104
Transposon-triggered innate immune response confers cancer resistance to the blind mole rat
Zhao, Y., Oreskovic, E., Zhang, Q., Lu, Q., Gilman, A., Lin, Y. S., He, J., Zheng, Z., Lu, J. Y., Lee, J., et al. (2021) · Nature Immunology · doi:10.1038/s41590-021-01027-8 · Cited by 99
ERK1/2 activation is a therapeutic target in age-related macular degeneration
Dridi, S., Hirano, Y., Tarallo, V., Kim, Y., Fowler, B. J., Ambati, B. K., Bogdanovich, S., Chiodo, V. A., Hauswirth, W. W., Kugel, J. F., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1206494109 · Cited by 105
A wealth of discovery built on the Human Genome Project — by the numbers
Gates, A. J., Gysi, D. M., Kellis, M., & Barabási, A.-L. (2021) · Nature · doi:10.1038/d41586-021-00314-6 · Cited by 98
Increased mutation and gene conversion within human segmental duplications
Vollger, M. R., Dishuck, P. C., Harvey, W. T., DeWitt, W. S., Guitart, X., Goldberg, M. E., Rozanski, A. N., Lucas, J., Asri, M., Human Pangenome Reference Consortium, et al. (2023) · Nature · doi:10.1038/s41586-023-05895-y · Cited by 104
Self-citationYohn, C. T., Jiang, Z., McGrath, S. D., Hayden, K. E., Khaitovich, P., Johnson, M. E., Eichler, M. Y., McPherson, J. D., Zhao, S., Pääbo, S., et al. (2005) · PLoS Biology · doi:10.1371/journal.pbio.0030110 · Cited by 104
Self-citationThe genetics of tobacco use: methods, findings and policy implications
Hall, W., Madden, P., & Lynskey, M. (2002) · Tobacco Control · doi:10.1136/tc.11.2.119 · Cited by 103
Many LINE1 elements contribute to the transcriptome of human somatic cells
Rangwala, S. H., Zhang, L., & Kazazian, H. H. (2009) · Genome Biology · doi:10.1186/gb-2009-10-9-r100 · Cited by 102
Jones, R. B., Garrison, K. E., Wong, J. C., Duan, E. H., Nixon, D. F., & Ostrowski, M. A. (2008) · PLoS ONE · doi:10.1371/journal.pone.0001547 · Cited by 99
Wickramasinghe, V. O., Gonzàlez-Porta, M., Perera, D., Bartolozzi, A. R., Sibley, C. R., Hallegger, M., Ule, J., Marioni, J. C., & Venkitaraman, A. R. (2015) · Genome Biology · doi:10.1186/s13059-015-0749-3 · Cited by 91
Kim, M., Park, Y.-K., Kang, T.-W., Lee, S.-H., Rhee, Y.-H., Park, J.-L., Kim, H.-J., Lee, D., Lee, D., Kim, S.-Y., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddt453 · Cited by 98
Evolution of small nucleolar RNAs in nematodes
Zemann, A., op de Bekke, A., Kiefmann, M., Brosius, J., & Schmitz, J. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl359 · Cited by 95
Chin, E. L., da Silva, C., & Hegde, M. (2013) · BMC Genetics · doi:10.1186/1471-2156-14-6 · Cited by 92
Cell Divisions Are Required for L1 Retrotransposition
Shi, X., Seluanov, A., & Gorbunova, V. (2007) · Molecular and Cellular Biology · doi:10.1128/mcb.01888-06 · Cited by 93
Human evolution: the non-coding revolution
Franchini, L. F., & Pollard, K. S. (2017) · BMC Biology · doi:10.1186/s12915-017-0428-9 · Cited by 90
Zhang, L., Rao, F., Zhang, K., Khandrika, S., Das, M., Vaingankar, S. M., Bao, X., Rana, B. K., Smith, D. W., Wessel, J., et al. (2007) · Journal of Clinical Investigation · doi:10.1172/jci31093 · Cited by 90
From “Cellular” RNA to “Smart” RNA: Multiple Roles of RNA in Genome Stability and Beyond
Michelini, F., Jalihal, A. P., Francia, S., Meers, C., Neeb, Z. T., Rossiello, F., Gioia, U., Aguado, J., Jones-Weinert, C., Luke, B., et al. (2018) · Chemical Reviews · doi:10.1021/acs.chemrev.7b00487 · Cited by 85
Dennis, S., Sheth, U., Feldman, J. L., English, K. A., & Priess, J. R. (2012) · PLoS Pathogens · doi:10.1371/journal.ppat.1002591 · Cited by 88
Computational discovery of internal micro-exons
Volfovsky, N., Haas, B. J., & Salzberg, S. L. (2003) · Genome Research · doi:10.1101/gr.677503 · Cited by 87
SIRT7 mediates L1 elements transcriptional repression and their association with the nuclear lamina
Vazquez, B. N., Thackray, J. K., Simonet, N. G., Chahar, S., Kane-Goldsmith, N., Newkirk, S. J., Lee, S., Xing, J., Verzi, M. P., An, W., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gkz519 · Cited by 79
Pervasive positive selection on duplicated and nonduplicated vertebrate protein coding genes
Studer, R. A., Penel, S., Duret, L., & Robinson-Rechavi, M. (2008) · Genome Research · doi:10.1101/gr.076992.108 · Cited by 84
Beyond Endometriosis Genome-Wide Association Study: From Genomics to Phenomics to the Patient
Rahmioglu, N., Morris, A., Nyholt, D., Montgomery, G., Becker, C., Missmer, S., & Zondervan, K. (2016) · Seminars in Reproductive Medicine · doi:10.1055/s-0036-1585408 · Cited by 84
Metadata
- Authors
- International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., Doyle, M., FitzHugh, W., Funke, R., Gage, D., Harris, K., Heaford, A., Howland, J., Kann, L., Lehoczky, J., LeVine, R., McEwan, P., McKernan, K., Meldrim, J., Mesirov, J. P., Miranda, C., Morris, W., Naylor, J., Raymond, C., Rosetti, M., Santos, R., Sheridan, A., Sougnez, C., Stange-Thomann, N., Stojanovic, N., Subramanian, A., Wyman, D., The Sanger Centre:, Rogers, J., Sulston, J., Ainscough, R., Beck, S., Bentley, D., Burton, J., Clee, C., Carter, N., Coulson, A., Deadman, R., Deloukas, P., Dunham, A., Dunham, I., Durbin, R., French, L., Grafham, D., Gregory, S., Hubbard, T., Humphray, S., Hunt, A., Jones, M., Lloyd, C., McMurray, A., Matthews, L., Mercer, S., Milne, S., Mullikin, J. C., Mungall, A., Plumb, R., Ross, M., Shownkeen, R., Sims, S., Washington University Genome Sequencing Center, Waterston, R. H., Wilson, R. K., Hillier, L. W., McPherson, J. D., Marra, M. A., Mardis, E. R., Fulton, L. A., Chinwalla, A. T., Pepin, K. H., Gish, W. R., Chissoe, S. L., Wendl, M. C., Delehaunty, K. D., Miner, T. L., Delehaunty, A., Kramer, J. B., Cook, L. L., Fulton, R. S., Johnson, D. L., Minx, P. J., Clifton, S. W., US DOE Joint Genome Institute:, Hawkins, T., Branscomb, E., Predki, P., Richardson, P., Wenning, S., Slezak, T., Doggett, N., Cheng, J.-F., Olsen, A., Lucas, S., Elkin, C., Uberbacher, E., Frazier, M., Baylor College of Medicine Human Genome Sequencing Center:, Gibbs, R. A., Muzny, D. M., Scherer, S. E., Bouck, J. B., Sodergren, E. J., Worley, K. C., Rives, C. M., Gorrell, J. H., Metzker, M. L., Naylor, S. L., Kucherlapati, R. S., Nelson, D. L., Weinstock, G. M., RIKEN Genomic Sciences Center:, Sakaki, Y., Fujiyama, A., Hattori, M., Yada, T., Toyoda, A., Itoh, T., Kawagoe, C., Watanabe, H., Totoki, Y., Taylor, T., UMR-8030:, G. A. C., Weissenbach, J., Heilig, R., Saurin, W., Artiguenave, F., Brottier, P., Bruls, T., Pelletier, E., Robert, C., Wincker, P., Department of Genome Analysis, I. O. M. B., Rosenthal, A., Platzer, M., Nyakatura, G., Taudien, S., Rump, A., GTC Sequencing Center:, Smith, D. R., Doucette-Stamm, L., Rubenfield, M., Weinstock, K., Lee, H. M., Dubois, J., Beijing Genomics Institute/Human Genome Center:, Yang, H., Yu, J., Wang, J., Huang, G., Gu, J., Multimegabase Sequencing Center, T. I. F. S. B., Hood, L., Rowen, L., Madan, A., Qin, S., Stanford Genome Technology Center:, Davis, R. W., Federspiel, N. A., Abola, A. P., Proctor, M. J., University of Oklahoma's Advanced Center for Genome Technology:, Roe, B. A., Chen, F., Pan, H., Max Planck Institute for Molecular Genetics:, Ramser, J., Lehrach, H., Reinhardt, R., Cold Spring Harbor Laboratory, L. A. H. G. C., McCombie, W. R., de la Bastide, M., Dedhia, N., GBF—German Research Centre for Biotechnology:, Blöcker, H., Hornischer, K., Nordsiek, G., *Genome Analysis Group (listed in alphabetical order, A. I. I. L. U. O. H., Agarwala, R., Aravind, L., Bailey, J. A., Bateman, A., Batzoglou, S., Birney, E., Bork, P., Brown, D. G., Burge, C. B., Cerutti, L., Chen, H.-C., Church, D., Clamp, M., Copley, R. R., Doerks, T., Eddy, S. R., Eichler, E. E., Furey, T. S., Galagan, J., Gilbert, J. G. R., Harmon, C., Hayashizaki, Y., Haussler, D., Hermjakob, H., Hokamp, K., Jang, W., Johnson, L. S., Jones, T. A., Kasif, S., Kaspryzk, A., Kennedy, S., Kent, W. J., Kitts, P., Koonin, E. V., Korf, I., Kulp, D., Lancet, D., Lowe, T. M., McLysaght, A., Mikkelsen, T., Moran, J. V., Mulder, N., Pollara, V. J., Ponting, C. P., Schuler, G., Schultz, J., Slater, G., Smit, A. F. A., Stupka, E., Szustakowki, J., Thierry-Mieg, D., Thierry-Mieg, J., Wagner, L., Wallis, J., Wheeler, R., Williams, A., Wolf, Y. I., Wolfe, K. H., Yang, S.-P., Yeh, R.-F., Scientific management: National Human Genome Research Institute, U. N. I. O. H., Collins, F., Guyer, M. S., Peterson, J., Felsenfeld, A., Wetterstrand, K. A., Stanford Human Genome Center:, Myers, R. M., Schmutz, J., Dickson, M., Grimwood, J., Cox, D. R., University of Washington Genome Center:, Olson, M. V., Kaul, R., Raymond, C., Department of Molecular Biology, K. U. S. O. M., Shimizu, N., Kawasaki, K., Minoshima, S., University of Texas Southwestern Medical Center at Dallas:, Evans, G. A., Athanasiou, M., Schultz, R., Office of Science, U. D. O. E., Patrinos, A., The Wellcome Trust:, & Morgan, M. J.
- Affiliations
- Whitehead Institute for Biomedical Research (US)
- University of Washington (US)
- Wellcome Sanger Institute (GB)
- Washington University in St. Louis (US)
- Joint Genome Institute (US)
- Baylor College of Medicine (US)
- The University of Texas at San Antonio Health Science Center (US)
- Albert Einstein College of Medicine (US)
- RIKEN (JP)
- Centre National de la Recherche Scientifique (FR)
- Chinese Academy of Sciences (CN)
- Institute for Systems Biology (US)
- Stanford University (US)
- University of Oklahoma (US)
- Max Planck Institute for Molecular Genetics (DE)
- Cold Spring Harbor Laboratory (US)
- Helmholtz Centre for Infection Research (DE)
- National Institutes of Health (US)
- University Hospitals of Cleveland (US)
- European Bioinformatics Institute (GB)
- Max Delbrück Center (DE)
- Howard Hughes Medical Institute (US)
- University of California, Santa Cruz (US)
- Stanford Medicine (US)
- Trinity College Dublin (IE)
- University of Michigan (US)
- University of Oxford (GB)
- Keio University (JP)
- Institut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement (FR)
- United States Department of Energy (US)
- The University of Texas Southwestern Medical Center (US)
- Wellcome Trust (GB)
- Corresponding author
- Lander, Eric S.
- Sulston, John
- Waterston, Robert H.
- Collins, Francis
- ORCID
- Lander, Eric S.
- Birren, Bruce
- Nusbaum, Chad
- Zody, Michael C.
- Dewar, Ken
- Howland, John
- Kann, Lisa
- Lehoczky, Jessica
- McKernan, Kevin
- Meldrim, James
- Mesirov, Jill P.
- Subramanian, Aravind
- Beck, Stephan
- Deloukas, Panos
- Dunham, Ian
- Durbin, Richard
- French, Lisa
- Gregory, Simon
- Hubbard, Tim
- Humphray, Sean
- Hunt, Adrienne
- Jones, Matthew
- McMurray, Amanda
- Milne, Sarah
- Mullikin, James C.
- Mungall, Andrew
- Ross, Mark
- Sims, Sarah
- Waterston, Robert H.
- McPherson, John D.
- Marra, Marco A.
- Mardis, Elaine R.
- Chinwalla, Asif T.
- Pepin, Kymberlie H.
- Wendl, Michael C.
- Kramer, Jason B.
- Cook, Lisa L.
- Fulton, Robert S.
- Minx, Patrick J.
- Branscomb, Elbert
- Doggett, Norman
- Cheng, Jan-Fang
- Olsen, Anne
- Lucas, Susan
- Gibbs, Richard A.
- Muzny, Donna M.
- Scherer, Steven E.
- Sodergren, Erica J.
- Worley, Kim C.
- Kucherlapati, Raju S.
- Nelson, David L.
- Weinstock, George M.
- Hattori, Masahira
- Yada, Tetsushi
- Toyoda, Atsushi
- Itoh, Takehiko
- Totoki, Yasushi
- Taylor, Todd
- Weissenbach, Jean
- Wincker, Patrick
- Platzer, Matthias
- Rump, Andreas
- Yang, Huanming
- Wang, Jian
- Hood, Leroy
- Madan, Anup
- Davis, Ronald W.
- Chen, Feng
- Pan, Huaqin
- Reinhardt, Richard
- McCombie, W. Richard
- Agarwala, Richa
- Aravind, L.
- Bailey, Jeffrey A.
- Bateman, Alex
- Batzoglou, Serafim
- Birney, Ewan
- Brown, Daniel G.
- Burge, Christopher B.
- Cerutti, Lorenzo
- Church, Deanna
- Copley, Richard R.
- Eddy, Sean R.
- Eichler, Evan E.
- Furey, Terrence S.
- Galagan, James
- Gilbert, James G. R.
- Harmon, Cyrus
- Hayashizaki, Yoshihide
- Haussler, David
- Hermjakob, Henning
- Hokamp, Karsten
- Jang, Wonhee
- Kasif, Simon
- Koonin, Eugene V.
- Korf, Ian
- Kulp, David
- Lancet, Doron
- Lowe, Todd M.
- McLysaght, Aoife
- Mikkelsen, Tarjei
- Moran, John V.
- Mulder, Nicola
- Ponting, Chris P.
- Schultz, Jörg
- Slater, Guy
- Smit, Arian F. A.
- Stupka, Elia
- Wheeler, Raymond
- Wolf, Yuri I.
- Wolfe, Kenneth H.
- Collins, Francis
- Wetterstrand, Kris A.
- Myers, Richard M.
- Schmutz, Jeremy
- Grimwood, Jane
- Cox, David R.
- Olson, Maynard V.
- Kaul, Rajinder
- Raymond, Christopher
- Kawasaki, Kazuhiko
- Venue
- Nature
- Published
- 2001-02-01
- Volume
- 409
- Issue
- 6822
- Pages
- 860-921
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W2168909179
- Semantic Scholar
- 040e3692c4855e5d2e41cacf7aeaa36c00c11570
- Cited by
- 24,216
- References
- 458
- Citations by year
- 2026: 390 · 2025: 694 · 2024: 771 · 2023: 760 · 2022: 759 · 2021: 977 · 2020: 848 · 2019: 768 · 2018: 818 · 2017: 834 · 2016: 832 · 2015: 838 · 2014: 879 · 2013: 1002 · 2012: 1000
- FWCI
- 569.69
- Type
- journal article
- Language
- en
- Update notices
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Nature (publishedVersion, public-domain)
- PubMed (publishedVersion)
- Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
- Deep Blue (University of Michigan) (submittedVersion, public-domain)
- HAL (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Research Explorer (The University of Manchester) (submittedVersion)
- Tokyo Tech Research Repository (Tokyo Institute of Technology) (submittedVersion)
- Funders
- National Science Foundation
- U.S. Department of Energy
- University of Pennsylvania
- Achievement Rewards for College Scientists Foundation
- Wellcome Trust
- European Commission
- Deutsche Forschungsgemeinschaft
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung
- National Natural Science Foundation of China
- Bundesministerium für Bildung und Forschung
- Chinese Academy of Sciences
- National Yang-Ming University
- National Institutes of Health
- Medical Research Council
- Institute of Medical Science, University of Tokyo
- National Human Genome Research Institute
- Biological and Environmental Research
- Institute of Genetics
- Office of Experimental Program to Stimulate Competitive Research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- human genome, genome sequencing, draft genome sequence, genome annotation, human evolution, human development, human physiology, human medicine
- MeSH terms
- Animals, Chromosome Mapping, DNA Transposable Elements, Drug Industry, Forecasting, Genes, Genetics, Medical, Humans, Mutation, Proteins, Repetitive Sequences, Nucleic Acid, RNA, Species Specificity, Genome, Human, Human Genome Project, Databases, Factual, Conserved Sequence, Private Sector, Public Sector, Sequence Analysis, DNA, CpG Islands, Evolution, Molecular, Gene Duplication, Proteome, GC Rich Sequence, Genetic Diseases, Inborn
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
