Results 1 to 10 of about 1,962,192 (329)

Expression of concern for global biomedical research by the human genome organization (HUGO) [PDF]

Human Genomics
Cuts to US science funding will stall advances in genomics affecting public health, rare disease and cancer diagnostics and therapeutics in the US and around the world.
Ada Hamosh, Fabiana Arzuaga, Karen B. Avraham, Zilfalil Bin Alwi, Anne Bowcock, Sir John Burn, Piero Carninci, Collet Dandara, Iscia Lopes-Cendes, Leon Mutesa, Partha P. Majumder, Juergen K.V. Reichardt, Joris A. Veltman   +12 more
doaj   +2 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

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
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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
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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   +3 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

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

The Human Genome [PDF]

Briefings in Bioinformatics, 2002
The total genetic complement of our species is called “human genome”. It comprises a set of different DNA molecules, corresponding to 25 different types of chromosomes (22 autosomes, X chromosome, Y chromosome, mitochondrial DNA) which are present within our cells.
A. Rosenthal, L. Vakalopoulou
  +9 more sources

The effects of common structural variants on 3D chromatin structure

BMC Genomics, 2020
Background Three-dimensional spatial organization of chromosomes is defined by highly self-interacting regions 0.1–1 Mb in size termed Topological Associating Domains (TADs).
Omar Shanta, Amina Noor, Human Genome Structural Variation Consortium (HGSVC), Jonathan Sebat   +3 more
doaj   +1 more source

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