Results 11 to 20 of about 9,417,161 (263)

[The Human Genome Project]

Kennedy Institute of Ethics Journal, 1991
The Human Genome ...
Sharon J, Durfy, Amy E, Grotevant
core   +3 more sources

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

Fully phased human genome assembly without parental data using single-cell strand sequencing and long reads [PDF]

, 2021
Human genomes are typically assembled as consensus sequences that lack information on parental haplotypes. Here we describe a reference-free workflow for diploid de novo genome assembly that combines the chromosome-wide phasing and scaffolding ...
Sorensen, Melanie, Ebler, Jana, Marijon, P., Ebert, Peter, Sanders, A.D., Pierre Marijon, Mitchell R. Vollger, Korbel, J., Marijon, Pierre, Paten, B., Harvey, W.T., Melanie Sorensen, Benedict Paten, Ashley D. Sanders, Marschall, T., Sulovari, A., Haukness, Marina, Lee, Charles, Maryam Ghareghani, Audano, P., Peter A. Audano, Scott E. Devine, Structural Variation Consortium, Human Genome, Ebert, P., Marschall, Tobias, Paten, Benedict, Katherine M. Munson, Ebler, J., Harvey, W., Peter Ebert, Lansdorp, P., David Porubsky, Jan O. Korbel, Chaisson, Mark J P, Haukness, M., William T. Harvey, Eichler, E.E., Arvis Sulovari, Eichler, E., Chaisson, M.J.P., Chaisson, M., Vollger, Mitchell R, Vollger, M.R., Sanders, Ashley D, Evan E. Eichler, Ghareghani, M., Harvey, William T, Tobias Marschall, Jana Ebler, Peter M. Lansdorp, Mark J. P. Chaisson, Devine, Scott E, Lansdorp, P.M., Sanders, A., Audano, P.A., Eichler, Evan E, Porubsky, D., Sulovari, Arvis, Devine, S.E., Devine, S., Ghareghani, Maryam, Porubsky, David, Munson, K.M., Vollger, M., Sorensen, M., Audano, Peter A, Charles Lee, Lansdorp, Peter M, Munson, Katherine M, Munson, K., Korbel, J.O., Marina Haukness, Korbel, Jan O, Lee, C.   +73 more
core   +1 more source

Pan-genomics in the human genome era

Nature Reviews Genetics, 2020
Since the early days of the genome era, the scientific community has relied on a single 'reference' genome for each species, which is used as the basis for a wide range of genetic analyses, including studies of variation within and across species. As sequencing costs have dropped, thousands of new genomes have been sequenced, and scientists have come ...
Rachel M. Sherman, Steven L. Salzberg
openaire   +3 more sources

The Sequence of the Human Genome [PDF]

Clinical Chemistry, 2015
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 ...
J Craig, Venter, Hamilton O, Smith, Mark D, Adams   +2 more
openaire   +2 more sources

Draft Genome Sequence of the Serratia rubidaea CIP 103234T Reference Strain, a Human-Opportunistic Pathogen. [PDF]

, 2015
We provide here the first genome sequence of a Serratia rubidaea isolate, a human-opportunistic pathogen.
Imanci, D, Dortet, L, Girlich, D, Bonnin, RA, Naas, T   +4 more
core   +1 more source

Finishing the euchromatic sequence of the human genome

, 2004
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion ...
Abdellah, Zahra, Webber, Caleb, International Human Genome Sequencing Consortium   +2 more
core   +2 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
openaire   +7 more sources

Unusual sequence characteristics of human chromosome 19 are conserved across 11 nonhuman primates

BMC Evolutionary Biology, 2020
Background Human chromosome 19 has many unique characteristics including gene density more than double the genome-wide average and 20 large tandemly clustered gene families.
R. Alan Harris, Muthuswamy Raveendran, Kim C. Worley, Jeffrey Rogers   +3 more
doaj   +1 more source

CoRe: a robustly benchmarked R package for identifying core-fitness genes in genome-wide pooled CRISPR-Cas9 screens

BMC Genomics, 2021
Background CRISPR-Cas9 genome-wide screens are being increasingly performed, allowing systematic explorations of cancer dependencies at unprecedented accuracy and scale.
Alessandro Vinceti, Emre Karakoc, Clare Pacini, Umberto Perron, Riccardo Roberto De Lucia, Mathew J. Garnett, Francesco Iorio   +6 more
doaj   +1 more source