Results 31 to 40 of about 11,509,666 (312)

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

RNA-Guided Human Genome Engineering via Cas9

Science, 2013
Genome Editing Clustered regularly interspaced short palindromic repeats (CRISPR) function as part of an adaptive immune system in a range of prokaryotes: Invading phage and plasmid DNA is targeted for cleavage by complementary CRISPR RNAs (crRNAs) bound
P. Mali, Luhan Yang, K. Esvelt, John D Aach, M. Guell, James E. DiCarlo, J. Norville, G. Church   +7 more
semanticscholar   +1 more source

A single-cell atlas of chromatin accessibility in the human genome

Cell, 2021
SUMMARY Current catalogs of regulatory sequences in the human genome are still incomplete and lack cell type resolution. To profile the activity of gene regulatory elements in diverse cell types and tissues in the human body, we applied single-cell ...
Kai Zhang, James D. Hocker, Michael Miller, Xiaomeng Hou, Joshua Chiou, Olivier B. Poirion, Yunjiang Qiu, Y. Li, K. Gaulton, Allen Wang, Sebastian Preissl, B. Ren   +11 more
semanticscholar   +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

The human genome browser at UCSC.

Genome Research, 2002
As vertebrate genome sequences near completion and research refocuses to their analysis, the issue of effective genome annotation display becomes critical.
W. Kent, C. Sugnet, T. Furey, Krishna M. Roskin, Tom H. Pringle, A. Zahler, D. Haussler   +6 more
semanticscholar   +1 more source

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

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

A map of human genome variation from population scale sequencing

Nature, 2010
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype.
G. Abecasis, D. Altshuler, A. Auton, L. Brooks, R. Durbin, R. Gibbs, M. Hurles, G. McVean   +7 more
semanticscholar   +1 more source

Comprehensive mapping of long range interactions reveals folding principles of the human genome

Science, 2009
Chromosomal Mapping The conformation of the genome in the nucleus and contacts between both proximal and distal loci influence gene expression. In order to map genomic contacts, Lieberman-Aiden et al. (p.
E. Lieberman-Aiden, Nynke L. van Berkum, Louise Williams, Maxim Imakaev, T. Ragoczy, A. Telling, I. Amit, B. Lajoie, P. Sabo, M. Dorschner, R. Sandstrom, B. Bernstein, M. Bender, M. Groudine, A. Gnirke, J. Stamatoyannopoulos, L. Mirny, E. Lander, J. Dekker   +18 more
semanticscholar   +1 more source