Results 11 to 20 of about 11,305,394 (400)

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, Andrey V. 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, Valerie V B Maduro, T. Marschall, Ann M. McCartney, Jennifer McDaniel, Danny E. Miller, Jim 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

An Integrated Encyclopedia of DNA Elements in the Human Genome

Nature, 2012
The human genome encodes the blueprint of life, but the function of the vast majority of its nearly three billion bases is unknown. The Encyclopedia of DNA Elements (ENCODE) project has systematically mapped regions of transcription, transcription factor
ENCODEConsortium, Martin Renqiang Min
semanticscholar   +1 more source

Phenotypic variance explained by local ancestry in admixed African Americans

Frontiers in Genetics, 2015
We surveyed 26 quantitative traits and disease outcomes to understand the proportion of phenotypic variance explained by local ancestry in admixed African Americans. After inferring local ancestry as the number of African-ancestry chromosomes at hundreds
Daniel eShriner, Amy R. Bentley, Ayo Priscille Doumatey, Guanjie eChen, Jie eZhou, Adebowale eAdeyemo, Charles N. Rotimi   +6 more
doaj   +1 more source

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

Genome Biology, 2009
Bowtie is an ultrafast, memory-efficient alignment program for aligning short DNA sequence reads to large genomes. For the human genome, Burrows-Wheeler indexing allows Bowtie to align more than 25 million reads per CPU hour with a memory footprint of ...
Ben Langmead, C. Trapnell, Mihai Pop, S. Salzberg   +3 more
semanticscholar   +1 more source

Plasmodium knowlesi Genome Sequences from Clinical Isolates Reveal Extensive Genomic Dimorphism. [PDF]

, 2015
Plasmodium knowlesi is a newly described zoonosis that causes malaria in the human population that can be severe and fatal. The study of P. knowlesi parasites from human clinical isolates is relatively new and, in order to obtain maximum information from
A Conesa, A Ecker, A Pain, A Sinha, AR Quinlan, B Langmead, B Singh, B Singh, C Aurrecoechea, C Daneshvar, C Hertz-Fowler, CJ Sutherland, EV Meyer, FA Fatih, H Li, I Kozarewa, J Cox-Singh, J Cox-Singh, Janet Cox-Singh, JB Koenderink, JC Barrett, JC Barrett, JC de Roode, JC Rayner, Julian C. Rayner, K Rutherford, KS Lee, L Mamanova, LH Miller, LH Miller, M Ashburner, M Rougemont, M Yuda, MA Ahmed, Md Atique Ahmed, Miguel M. Pinheiro, Osamu Kaneko, P Jones, P Librado, PC Divis, PM Jones, R Leinonen, R Tanizaki, R Tripathi, S Iwanaga, S Purcell, Sanjeev Krishna, Scott B. Millar, SE Lindner, SO Oyola, SW Roy, T Carver, T William, TC Yeo, Theo Sanderson, Thomas D. Otto, U Bronner, Woon Chan Lu, YL Lau   +58 more
core   +4 more sources

Unified theory of human genome reveals a constrained spatial chromosomal arrangement in interphase nuclei [PDF]

, 2015
We investigate a densely packed, non-random arrangement of forty-six chromosomes (46,XY) in human nuclei. Here, we model systems-level chromosomal crosstalk by unifying intrinsic parameters (chromosomal length and number of genes) across all pairs of ...
Fatakia, Sarosh N., Mehta, Ishita S., Rao, Basuthkar J.   +2 more
core   +2 more sources

CADD: predicting the deleteriousness of variants throughout the human genome

Nucleic Acids Res., 2018
Combined Annotation-Dependent Depletion (CADD) is a widely used measure of variant deleteriousness that can effectively prioritize causal variants in genetic analyses, particularly highly penetrant contributors to severe Mendelian disorders.
Philipp Rentzsch, D. Witten, G. Cooper, J. Shendure, Martin Kircher   +4 more
semanticscholar   +1 more source

From metagenomics to the metagenome: Conceptual change and the rhetoric of translational genomic research [PDF]

, 2009
As the international genomic research community moves from the tool-making efforts of the Human Genome Project into biomedical applications of those tools, new metaphors are being suggested as useful to understanding how our genes work – and for ...
Huss, John Edward, Juengst, Eric Thomas
core   +1 more source

SVachra: a tool to identify genomic structural variation in mate pair sequencing data containing inward and outward facing reads

BMC Genomics, 2017
Background Characterization of genomic structural variation (SV) is essential to expanding the research and clinical applications of genome sequencing.
Oliver A. Hampton, Adam C. English, Mark Wang, William J. Salerno, Yue Liu, Donna M. Muzny, Yi Han, David A. Wheeler, Kim C. Worley, James R. Lupski, Richard A. Gibbs   +10 more
doaj   +1 more source

Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

Nature Communications, 2021
PU.1 is a master regulator of myeloid development but its role in disease-relevant neutrophils is not well known. Here, the authors look at primary neutrophils from a human population and find that genetic variants affecting binding of PU.1 are ...
Stephen Watt, Louella Vasquez, Klaudia Walter, Alice L. Mann, Kousik Kundu, Lu Chen, Ying Sims, Simone Ecker, Frances Burden, Samantha Farrow, Ben Farr, Valentina Iotchkova, Heather Elding, Daniel Mead, Manuel Tardaguila, Hannes Ponstingl, David Richardson, Avik Datta, Paul Flicek, Laura Clarke, Kate Downes, Tomi Pastinen, Peter Fraser, Mattia Frontini, Biola-Maria Javierre, Mikhail Spivakov, Nicole Soranzo   +26 more
doaj   +1 more source