Results 11 to 20 of about 2,078,242 (303)

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

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

Genome dynamics of the human embryonic kidney 293 lineage in response to cell biology manipulations [PDF]

, 2014
The HEK293 human cell lineage is widely used in cell biology and biotechnology. Here we use whole-genome resequencing of six 293 cell lines to study the dynamics of this aneuploid genome in response to the manipulations used to generate common 293 cell ...
Boone, Morgane, Callewaert, Nico, Chen, Jason, Drmanac, Radoje, Lambrechts, Diether, Lemmens, Irma, Lin, Yao-Cheng, Meuris, Leander, Moisse, Matthieu, Plaisance, Stéphane, Reumers, Joke, Soete, Arne, Speleman, Franki, Tavernier, Jan, Van de Peer, Yves, Van Roy, Nadine   +15 more
core   +3 more sources

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

Measuring microsatellite conservation in mammalian evolution with a phylogenetic birth-death model. [PDF]

, 2012
Microsatellites make up ∼3% of the human genome, and there is increasing evidence that some microsatellites can have important functions and can be conserved by selection.
Buschiazzo, Emmanuel, Gemmell, Neil, Lennon, Dustin, Minin, Vladimir N, Sawaya, Sterling M   +4 more
core   +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   +7 more sources

Genetic variants associated with Hermansky-Pudlak syndrome

Platelets, 2020
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. Clinical manifestations include a bleeding diathesis due to a platelet delta storage pool deficiency ...
Melissa A. Merideth, Wendy J. Introne, Jennifer A. Wang, Kevin J. O’Brien, Marjan Huizing, Bernadette R. Gochuico   +5 more
doaj   +1 more source

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