Results 11 to 20 of about 2,058,071 (297)

Diverse human genomes [PDF]

Nature Methods, 2020
A study in Science shows that anthropologically informed approaches to genome sequencing can provide a fuller understanding of human genetic variation, including new insights into how past events have led to present-day population structure.
openaire   +5 more sources

Human genome regulation [PDF]

Bioengineered, 2016
In the early 90s, Manfred Eigen lectured at Hoffman-La Roche and explained that a gene of 1,000 base pairs has 10605 combinations.
Bach, Christian, Patra, Prabir
openaire   +2 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

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

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   +2 more sources

HDAC9 is implicated in atherosclerotic aortic calcification and affects vascular smooth muscle cell phenotype. [PDF]

, 2019
Aortic calcification is an important independent predictor of future cardiovascular events. We performed a genome-wide association meta-analysis to determine SNPs associated with the extent of abdominal aortic calcification (n = 9,417) or descending ...
Bagchi, Aranya, Barnes, Hanna J, Bloch, Donald B, Bowden, Donald W, Budoff, Matthew, Buswell, Mary D, Buys, Emmanuel S, Campbell, Catherine Y, Criqui, Michael H, Debette, Stephanie, Erbel, Raimund, Feitosa, Mary F, Franceschini, Nora, Freedman, Barry I, Gudnason, Vilmundur, Guo, Xiuqing, Harris, Tamara, Hoffmann, Udo, Hwang, Shih-Jen, Johnson, Andrew D, Jöckel, Karl-Heinz, Kälsch, Hagen, Lindsay, Mark E, Lino Cardenas, Christian L, Lu, Lingyi, Malhotra, Rajeev, Mauer, Andreas C, Moebus, Susanne, Nicholson, Christopher J, Nigwekar, Sagar U, Nöthen, Markus M, O'Donnell, Christopher J, Pechlivanis, Sonali, Post, Wendy S, Rhee, David K, Rotter, Jerome I, Rourke, Caitlin O', Shelton, Georgia, Sigurdsson, Sigurdur, Sigurslid, Haakon H, Slocum, Charles, Smith, Albert V, Song, Ci, Thanassoulis, George, Wang, Judy, Wong, Quenna, Wunderer, Florian, Yao, Jie, Zapol, Warren M, Zhang, Xiaoling   +49 more
core   +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