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The Sequence of the Human Genome [PDF]

Science, 2001
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 ...
Venter, J. Craig, Adams, Mark, Myers, Eugene, Li, Peter, Mural, Richard, Sutton, Granger, Smith, Hamilton, Yandell, Mark, Evans, Cheryl, Holt, Robert, Gocayne, Jeannine, Amanatides, Peter, Ballew, Richard, Huson, Daniel, Wortman, Jennifer Russo, Zhang, Qing, Kodira, Chinnappa, Zheng, Xiangqun, Chen, Lin, Skupski, Marian, Subramanian, Gangadharan, Thomas, Paul, Zhang, Jinghui, Gabor Miklos, George, Nelson, Catherine, Broder, Samuel, Clark, Andrew, Nadeau, Joe, Mckusick, Victor, Zinder, Norton, Levine, Arnold, Roberts, Richard, Simon, Mel, Slayman, Carolyn, Hunkapiller, Michael, Bolanos, Randall, Delcher, Arthur, Dew, Ian, Fasulo, Daniel, Flanigan, Michael, Florea, Liliana, Halpern, Aaron, Hannenhalli, Sridhar, Kravitz, Saul, Levy, Samuel, Mobarry, Clark, Reinert, Knut, Remington, Karin, Abu-Threideh, Jane, Beasley, Ellen, Biddick, Kendra, Bonazzi, Vivien, Brandon, Rhonda, Cargill, Michele, Chandramouliswaran, Ishwar, Charlab, Rosane, Chaturvedi, Kabir, Deng, Zuoming, Francesco, Valentina Di, Dunn, Patrick, Eilbeck, Karen, Evangelista, Carlos, Gabrielian, Andrei, Gan, Weiniu, Ge, Wangmao, Gong, Fangcheng, Gu, Zhiping, Guan, Ping, Heiman, Thomas, Higgins, Maureen, Ji, Rui-Ru, Ke, Zhaoxi, Ketchum, Karen, Lai, Zhongwu, Lei, Yiding, Li, Zhenya, Li, Jiayin, Liang, Yong, Lin, Xiaoying, Lu, Fu, Merkulov, Gennady, Milshina, Natalia, Moore, Helen, Naik, Ashwinikumar, Narayan, Vaibhav, Neelam, Beena, Nusskern, Deborah, Rusch, Douglas, Salzberg, Steven, Shao, Wei, Shue, Bixiong, Sun, Jingtao, Wang, Zhen Yuan, Wang, Aihui, Wang, Xin, Wang, Jian, Wei, Ming-Hui, Wides, Ron, Xiao, Chunlin, Yan, Chunhua, Yao, Alison, Ye, Jane, Zhan, Ming, Zhang, Weiqing, Zhang, Hongyu, Zhao, Qi, Zheng, Liansheng, Zhong, Fei, Zhong, Wenyan, Zhu, Shiaoping, Zhao, Shaying, Gilbert, Dennis, Baumhueter, Suzanna, Spier, Gene, Carter, Christine, Cravchik, Anibal, Woodage, Trevor, Ali, Feroze, An, Huijin, Awe, Aderonke, Baldwin, Danita, Baden, Holly, Barnstead, Mary, Barrow, Ian, Beeson, Karen, Busam, Dana, Carver, Amy, Center, Angela, Cheng, Ming Lai, Curry, Liz, Danaher, Steve, Davenport, Lionel, Desilets, Raymond, Dietz, Susanne, Dodson, Kristina, Doup, Lisa, Ferriera, Steven, Garg, Neha, Gluecksmann, Andres, Hart, Brit, Haynes, Jason, Haynes, Charles, Heiner, Cheryl, Hladun, Suzanne, Hostin, Damon, Houck, Jarrett, Howland, Timothy, Ibegwam, Chinyere, Johnson, Jeffery, Kalush, Francis, Kline, Lesley, Koduru, Shashi, Love, Amy, Mann, Felecia, May, David, Mccawley, Steven, Mcintosh, Tina, Mcmullen, Ivy, Moy, Mee, Moy, Linda, Murphy, Brian, Nelson, Keith, Pfannkoch, Cynthia, Pratts, Eric, Puri, Vinita, Qureshi, Hina, Reardon, Matthew, Rodriguez, Robert, Rogers, Yu-Hui, Romblad, Deanna, Ruhfel, Bob, Scott, Richard, Sitter, Cynthia, Smallwood, Michelle, Stewart, Erin, Strong, Renee, Suh, Ellen, Thomas, Reginald, Tint, Ni Ni, Tse, Sukyee, Vech, Claire, Wang, Gary, Wetter, Jeremy, Williams, Sherita, Williams, Monica, Windsor, Sandra, Winn-Deen, Emily, Wolfe, Keriellen, Zaveri, Jayshree, Zaveri, Karena, Abril, Josep, Guigó, Roderic, Campbell, Michael, Sjolander, Kimmen, Karlak, Brian, Kejariwal, Anish, Mi, Huaiyu, Lazareva, Betty, Hatton, Thomas, Narechania, Apurva, Bafna, Vineet, Schwartz, Russell, Yooseph, Shibu, Mays, Anne Deslattes, Harris, Michael   +204 more
openaire   +8 more sources

Mapping the human genome

The Hastings Center Report, 1989
The following pages aim to lay a foundation for understanding the excitement surrounding the ''human genome project,'' as well as to convey a flavor of the ongoing efforts and plans at the Human Genome Center at the Lawrence Berkeley Laboratory. Our own work, of course, is only part of a broad international effort that will dramatically enhance our ...
Charles R. Cantor
  +10 more sources

The complete sequence of a human genome

bioRxiv, 2021
In 2001, Celera Genomics and the International Human Genome Sequencing Consortium published their initial drafts of the human genome, which revolutionized the field of genomics.
S. Nurk, S. Koren, A. Rhie, M. Rautiainen, A. Bzikadze, Alla Mikheenko, Mitchell R. Vollger, Nicolas Altemose, L. Uralsky, Ariel Gershman, S. Aganezov, Savannah J. Hoyt, M. Diekhans, Glennis A. Logsdon, Michael Alonge, S. Antonarakis, M. Borchers, G. Bouffard, Shelise Y. Brooks, G. V. Caldas, Haoyu Cheng, Chen-Shan Chin, W. Chow, L. G. de Lima, Philip C. Dishuck, R. Durbin, T. Dvorkina, Ian T. Fiddes, G. Formenti, R. Fulton, Arkarachai Fungtammasan, Erik K. Garrison, Patrick G. S. Grady, Tina A. Graves-Lindsay, Ira M. Hall, Nancy F. Hansen, Gabrielle Hartley, Marina Haukness, K. Howe, M. Hunkapiller, Chirag Jain, Miten Jain, E. Jarvis, Peter Kerpedjiev, Melanie Kirsche, M. Kolmogorov, J. Korlach, Milinn Kremitzki, Heng Li, V. Maduro, T. Marschall, Ann M. McCartney, Jennifer McDaniel, Danny E. Miller, J. Mullikin, E. Myers, Nathan D. Olson, B. Paten, P. Peluso, P. Pevzner, David Porubsky, T. Potapova, E. Rogaev, J. Rosenfeld, S. Salzberg, Valerie A. Schneider, F. Sedlazeck, Kishwar Shafin, Colin J. Shew, Alaina Shumate, Y. Sims, A. Smit, Daniela C. Soto, Ivan Sovic, Jessica M. Storer, Aaron M. Streets, B. Sullivan, F. Thibaud-Nissen, J. Torrance, Justin Wagner, B. Walenz, A. Wenger, J. Wood, Chunlin Xiao, Stephanie M. Yan, Alice C. Young, Samantha Zarate, U. Surti, R. McCoy, M. Dennis, I. Alexandrov, J. Gerton, R. O’Neill, W. Timp, J. Zook, M. Schatz, E. Eichler, K. Miga, A. Phillippy   +98 more
semanticscholar   +1 more source

Genomics of human longevity [PDF]

Philosophical Transactions of the Royal Society B: Biological Sciences, 2011
In animal models, single-gene mutations in genes involved in insulin/IGF and target of rapamycin signalling pathways extend lifespan to a considerable extent. The genetic, genomic and epigenetic influences on human longevity are expected to be much more complex.
Slagboom, P.E., Beekman, M., Passtoors, W.M., Deelen, J., Vaarhorst, A.A.M., Boer, J.M., Akker, E.B. van den, Heemst, D. van, Craen, A.J.M. de, Maier, A.B., Rozing, M., Mooijaart, S.P., Heijmans, B.T., Westendorp, R.G.J.   +13 more
openaire   +8 more sources

Profiling variable-number tandem repeat variation across populations using repeat-pangenome graphs

Nature Communications, 2021
Variable number tandem repeats (VNTRs) are difficult to analyze by short-read sequencing in disease studies. Here, the authors describe a VNTR mapping strategy for short-read analyses using a repeat pangenome graph.
Tsung-Yu Lu, The Human Genome Structural Variation Consortium, Mark J. P. Chaisson   +2 more
doaj   +1 more source

Genome-Wide Identification of Human Functional DNA Using a Neutral Indel Model [PDF]

, 2005
It has become clear that a large proportion of functional DNA in the human genome does not code for protein. Identification of this non-coding functional sequence using comparative approaches is proving difficult and has previously been thought to ...
Chris P Ponting, Gerton Lunter, International Chicken Genome Sequencing Consortium, International Human Genome Sequencing Consortium, International Human Genome Sequencing Consortium, Jotun Hein, Mouse Genome Sequencing Consortium, Steven Henikoff   +7 more
core   +8 more sources

Truvari: refined structural variant comparison preserves allelic diversity

Genome Biology, 2022
The fundamental challenge of multi-sample structural variant (SV) analysis such as merging and benchmarking is identifying when two SVs are the same.
Adam C. English, Vipin K. Menon, Richard A. Gibbs, Ginger A. Metcalf, Fritz J. Sedlazeck   +4 more
doaj   +1 more source

Expressing the human genome [PDF]

Nature, 2001
We have searched the human genome for genes encoding new proteins that may be involved in three nuclear gene expression processes: transcription, pre-messenger RNA splicing and polyadenylation. A plethora of potential new factors are implicated by sequence in nuclear gene expression, revealing a substantial but selective increase in complexity compared
TUPLER, Rossella, G. PERINI G., M. R. GREEN   +2 more
openaire   +2 more sources

Low-level variant calling for non-matched samples using a position-based and nucleotide-specific approach

BMC Bioinformatics, 2021
Background The widespread use of next-generation sequencing has identified an important role for somatic mosaicism in many diseases. However, detecting low-level mosaic variants from next-generation sequencing data remains challenging.
Jeffrey N. Dudley, Celine S. Hong, Marwan A. Hawari, Jasmine Shwetar, Julie C. Sapp, Justin Lack, Henoke Shiferaw, NISC Comparative Sequencing Program, Jennifer J. Johnston, Leslie G. Biesecker   +9 more
doaj   +1 more source

The Warburg effect is necessary to promote glycosylation in the blastema during zebrafish tail regeneration

npj Regenerative Medicine, 2021
Throughout their lifetime, fish maintain a high capacity for regenerating complex tissues after injury. We utilized a larval tail regeneration assay in the zebrafish Danio rerio, which serves as an ideal model of appendage regeneration due to its easy ...
Jason W. Sinclair, David R. Hoying, Erica Bresciani, Damian Dalle Nogare, Carli D. Needle, Alexandra Berger, Weiwei Wu, Kevin Bishop, Abdel G. Elkahloun, Ajay Chitnis, Paul Liu, Shawn M. Burgess   +11 more
doaj   +1 more source