Results 61 to 70 of about 10,877,278 (223)

Decoding the human genome [PDF]

Genome Research, 2012
Interpreting the human genome sequence is one of the major scientific endeavors of our time. In February 2001, when the human genome reference sequence was initially released (Lander et al. 2001), our understanding of the encoded contents was surprisingly limited.
openaire   +3 more sources

Genome sequence of Christensenella minuta DSM 22607T [PDF]

, 2017
Obesity influences and is influenced by the human gut microbiome. Here, we present the genome of Christensenella minuta, a highly heritable bacterial species which has been found to be strongly associated with obesity through an unknown biological ...
Hallsworth-Pepin, Kymberlie, Martin, John, Mitreva, Makedonka, Rosa, Bruce A, Wollam, Aye   +4 more
core   +2 more sources

Screening of the SHOX/PAR1 region using MLPA and miRNA expression profiling in a group of Egyptian children with non-syndromic short stature

Egyptian Journal of Medical Human Genetics, 2020
Background Short stature is defined as a body height below the third percentile, based on chronological age, or 2 standard deviations (SD) below the national height standard. The prevalence of short stature is around 2% of children worldwide.
Ola M. Eid, Maha M. Eid, Amany H. Abdelrahman, Rania M. A. Abdel kader, Marwa Farid, Rana Mahrous, Mona K. Mekkawy, Alaa K. Kamel, Inas Mazen, Hala T. El-Bassyouni   +9 more
doaj   +1 more source

Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry

Nature, 2008
DNA sequence information underpins genetic research, enabling discoveries of important biological or medical benefit. Sequencing projects have traditionally used long (400–800 base pair) reads, but the existence of reference sequences for the human and ...
D. Bentley, S. Balasubramanian, H. Swerdlow, G. P. Smith, J. Milton, Clive Brown, K. Hall, D. Evers, Colin L. Barnes, Helen Bignell, J. M. Boutell, J. Bryant, Richard J. Carter, R. K. Cheetham, A. Cox, D. Ellis, Michael R. Flatbush, N. Gormley, S. Humphray, Leslie J. Irving, Mirian Karbelashvili, Scott M. Kirk, Heng Li, Xiaohai Liu, K. Maisinger, L. Murray, B. Obradovic, T. Ost, Michael L. Parkinson, Mark Pratt, I. Rasolonjatovo, M. Reed, R. Rigatti, C. Rodighiero, M. Ross, A. Sabot, S. Sankar, A. Scally, G. Schroth, Mark E. B. Smith, Vincent P. Smith, Anastassia Spiridou, Peta E. Torrance, Svilen Tzonev, Eric H. Vermaas, Klaudia Walter, Xiaolin Wu, Lu Zhang, Mohammed D. Alam, C. Anastasi, Ify C. Aniebo, D. M. Bailey, Iain Bancarz, Saibal Banerjee, Selena Barbour, P. Baybayan, Vincent Benoit, Kevin Benson, Claire Bevis, Phillip J. Black, Asha Boodhun, J. S. Brennan, J. Bridgham, Rob C. Brown, A. Brown, Dale H. Buermann, Abass A. Bundu, James C. Burrows, N. Carter, Nestor Castillo, M. C. E. Catenazzi, Simon Chang, R. Cooley, Natasha R. Crake, Olubunmi O. Dada, Konstantinos D. Diakoumakos, Belen Dominguez-Fernandez, D. Earnshaw, Ugonna C. Egbujor, Dave Elmore, S. Etchin, Mark Ewan, M. Fedurco, Louise J. Fraser, K. F. Fajardo, W. S. Furey, Dave George, Kimberley J. Gietzen, Colin P. Goddard, G. Golda, Philip A. Granieri, David E. Green, D. Gustafson, Nancy F. Hansen, K. Harnish, C. Haudenschild, Narinder I. Heyer, Matthew M. Hims, Johnny T. Ho, Adrian Horgan, Katya Hoschler, Steve Hurwitz, D. V. Ivanov, Maria Q. Johnson, Terena James, T. A. Jones, Gyoung-Dong Kang, Tzvetana H. Kerelska, A. Kersey, I. Khrebtukova, A. Kindwall, Z. Kingsbury, P. Kokko-Gonzales, Anil Kumar, M. Laurent, C. Lawley, Sarah E. Lee, X. Lee, A. Liao, Jennifer A. Loch, Mitch Lok, Shujun J Luo, Radhika M. Mammen, J. W. Martin, P. McCauley, P. McNitt, Parul Mehta, Keith Moon, Joe W. Mullens, T. Newington, Z. Ning, B. Ng, Sonia M. Novo, Michael J. O'neill, M. Osborne, A. Osnowski, Omead Ostadan, L. Paraschos, L. Pickering, Andrew C. Pike, A. Pike, D. Chris Pinkard, Daniel P. Pliskin, Joe Podhasky, Victor J. Quijano, C. Raczy, Vicki H. Rae, S. Rawlings, Ana Chiva Rodriguez, Phyllida Roe, J. Rogers, M. C. Rogert Bacigalupo, Nikolai Romanov, A. Romieu, Rithy K. Roth, Natalie J. Rourke, Silke T. Ruediger, E. Rusman, Raquel M. Sanches-Kuiper, M. Schenker, J. Seoane, Richard Shaw, Mitch Shiver, S. Short, N. Sizto, Johannes P. Sluis, M. A. Smith, J. S. Sohna, Eric Spence, K. Stevens, Neil W. Sutton, L. Szajkowski, C. Tregidgo, G. Turcatti, S. Vandevondele, Yuli Verhovsky, Selene M. Virk, S. Wakelin, Gregory Walcott, Jingwen Wang, G. Worsley, Juying Yan, L. Yau, Mike Zuerlein, J. Rogers, J. Mullikin, M. Hurles, N. J. McCooke, John S. West, F. Oaks, Peter L. Lundberg, D. Klenerman, R. Durbin, Anthony J. Smith   +193 more
semanticscholar   +1 more source

Open access to the research literature : a funders perspective [PDF]

, 2006
In a declaration to commemorate the publication of the first draft of the human genome, UK Prime Minister Tony Blair and US President Bill Clinton commented that, “unencumbered access to this information will promote discoveries that will reduce the ...
Kiley, Robert, Terry, Robert
core   +1 more source

Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome

Nature Biotechnology, 2019
The DNA sequencing technologies in use today produce either highly accurate short reads or less-accurate long reads. We report the optimization of circular consensus sequencing (CCS) to improve the accuracy of single-molecule real-time (SMRT) sequencing (
A. Wenger, P. Peluso, W. Rowell, Pi-Chuan Chang, R. Hall, G. Concepcion, Jana Ebler, Arkarachai Fungtammasan, Alexey Kolesnikov, Nathan D. Olson, A. Töpfer, Michael Alonge, M. Mahmoud, Yufeng Qian, C. Chin, A. Phillippy, M. Schatz, G. Myers, M. DePristo, Jue Ruan, T. Marschall, F. Sedlazeck, J. Zook, Heng Li, S. Koren, Andrew Carroll, D. Rank, M. Hunkapiller   +27 more
semanticscholar   +1 more source

BoostMe accurately predicts DNA methylation values in whole-genome bisulfite sequencing of multiple human tissues

BMC Genomics, 2018
Background Bisulfite sequencing is widely employed to study the role of DNA methylation in disease; however, the data suffer from biases due to coverage depth variability.
Luli S. Zou, Michael R. Erdos, D. Leland Taylor, Peter S. Chines, Arushi Varshney, The McDonnell Genome Institute, Stephen C. J. Parker, Francis S. Collins, John P. Didion   +8 more
doaj   +1 more source

Student faculty forum: Human genome editing [PDF]

, 2017
Join us in discussion of the science behind the revolution in reading and manipulating the genome, possibilities for the future, and the ethical and legal issues in the field of genomics. Special guests include: Gustavo Mostoslavsky, Assoc.
Boston University Howard Thurman Center for Common Ground
core  

Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies

Genome Biology, 2020
Recent long-read assemblies often exceed the quality and completeness of available reference genomes, making validation challenging. Here we present Merqury, a novel tool for reference-free assembly evaluation based on efficient k-mer set operations.
Arang Rhie, Brian P. Walenz, Sergey Koren, Adam M. Phillippy   +3 more
doaj   +1 more source

Nanopore sequencing and assembly of a human genome with ultra-long reads

Nature Biotechnology, 2017
We report the sequencing and assembly of a reference genome for the human GM12878 Utah/Ceph cell line using the MinION (Oxford Nanopore Technologies) nanopore sequencer.
Miten Jain, S. Koren, K. Miga, J. Quick, Arthur C. Rand, T. Sasani, J. R. Tyson, A. Beggs, A. Dilthey, Ian T. Fiddes, S. Malla, Hannah Marriott, T. Nieto, J. O’Grady, Hugh E. Olsen, Brent S. Pedersen, A. Rhie, H. Richardson, A. Quinlan, T. Snutch, Louise Tee, B. Paten, A. Phillippy, J. Simpson, N. Loman, M. Loose   +25 more
semanticscholar   +1 more source