Results 81 to 90 of about 2,026,261 (344)

REAPR: a universal tool for genome assembly evaluation. [PDF]

, 2013
Methods to reliably assess the accuracy of genome sequence data are lacking. Currently completeness is only described qualitatively and mis-assemblies are overlooked.
Berriman, Matthew, Hunt, Martin, Kikuchi, Taisei, Newbold, Chris, Otto, Thomas D, Sanders, Mandy   +5 more
core   +2 more sources

The Human Genome [PDF]

Heredity, 2003
The Human Genome is a beautifully assembled and well-written publication, enriched with high-quality photographs and diagrams that will appeal to both students and professional scientists and educators. This seven-chapter book begins with an appropriate foreword by Nobel laureate James Watson, the codiscoverer of the structure of DNA.
openaire   +1 more source

Comparing self‐reported race and genetic ancestry for identifying potential differentially methylated sites in endometrial cancer: insights from African ancestry proportions using machine learning models

Molecular Oncology, EarlyView.
Integrating ancestry, differential methylation analysis, and machine learning, we identified robust epigenetic signature genes (ESGs) and Core‐ESGs in Black and White women with endometrial cancer. Core‐ESGs (namely APOBEC1 and PLEKHG5) methylation levels were significantly associated with survival, with tumors from high African ancestry (THA) showing ...
Huma Asif, J. Julie Kim
wiley   +1 more source

Extensive horizontal gene transfer during Staphylococcus aureus co-colonization in vivo. [PDF]

, 2014
Staphylococcus aureus is a commensal and major pathogen of humans and animals. Comparative genomics of S. aureus populations suggests that colonization of different host species is associated with carriage of mobile genetic elements (MGE), particularly ...
Gould, KA, Lindsay, JA, Lloyd, DH, Loeffler, A, McCarthy, AJ, Witney, AA   +5 more
core   +1 more source

A large‐scale retrospective study in metastatic breast cancer patients using circulating tumour DNA and machine learning to predict treatment outcome and progression‐free survival

Molecular Oncology, EarlyView.
There is an unmet need in metastatic breast cancer patients to monitor therapy response in real time. In this study, we show how a noninvasive and affordable strategy based on sequencing of plasma samples with longitudinal tracking of tumour fraction paired with a statistical model provides valuable information on treatment response in advance of the ...
Emma J. Beddowes, Mario Ortega Duran, Solon Karapanagiotis, Alistair Martin, Meiling Gao, Riccardo Masina, Ramona Woitek, James Tanner, Fleur Tippin, Justine Kane, Jonathan Lay, Anja Brouwer, Stephen‐John Sammut, Suet‐Feung Chin, Davina Gale, Dana W. Y. Tsui, Sarah‐Jane Dawson, Nitzan Rosenfeld, Maurizio Callari, Oscar M. Rueda, Carlos Caldas   +20 more
wiley   +1 more source

Ultraaccurate genome sequencing and haplotyping of single human cells. [PDF]

, 2017
Accurate detection of variants and long-range haplotypes in genomes of single human cells remains very challenging. Common approaches require extensive in vitro amplification of genomes of individual cells using DNA polymerases and high-throughput short ...
Bafna, Vineet, Bansal, Vikas, Chu, Wai Keung, Edge, Peter, Huang, Xiaohua, Lee, Ho Suk, Zhang, Kun   +6 more
core   +1 more source

Multidimensional OMICs reveal ARID1A orchestrated control of DNA damage, splicing, and cell cycle in normal‐like and malignant urothelial cells

Molecular Oncology, EarlyView.
Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser, Florian Krumbach, Eyleen Corrales, Geoffroy Andrieux, Christian Preisinger, Franziska Liss, Alexandra Golzmann, Melanie Boerries, Kerstin Becker, Ruth Knüchel, Stefan Garczyk, Bernhard Lüscher   +11 more
wiley   +1 more source

HERVs, transposons and human diseases : part 3 [PDF]

, 2012
Part 1 and 2 of this article can be found through theses links: https://www.um.edu.mt/library/oar//handle/123456789/12961 https://www.um.edu.mt/library/oar//handle/123456789/13012Part 3 of the article.
Baldacchino, Sandra, Grech, Alfred
core   +1 more source

Statistical analysis of simple repeats in the human genome

, 2005
The human genome contains repetitive DNA at different level of sequence length, number and dispersion. Highly repetitive DNA is particularly rich in homo-- and di--nucleotide repeats, while middle repetitive DNA is rich of families of interspersed ...
Batzer, Bhattacharyya, Bois, Brukner, Chingfer, Coté, Deepali, Deininger, Deininger, Dermitazakis, Dieringer, Englander, Eyre-Walker, Force, Fransz, Fryxell, Glusman, Han, Herzel, Holste, Iyer, Johanning, Kazazian, Lai, Li, Lillo, Lio, Lynch, Lynch, Lynch, Mantegna, Nelson, Roy-Engel, Scott, Umar, Wagner, Wagner, Wassermann, Weiner   +38 more
core   +1 more source

The GENESTAR manual for biospecimen collection biobanking and omics data generation from commercial space missions

npj Microgravity
The surge in commercial and civilian spaceflight enables the systematic and longitudinal, large-scale biospecimen collection to understand the prospective effects of space travel on human health.
Aparna Krishnavajhala, Marie-Claude Gingras, Emmanuel Urquieta, Hsu Chao, Dilrukshi Bandaranaike, Yi Chen, Sravya Bhamidipati, Viktoriya Korchina, S. Michelle Griffin, Michal M. Masternak, Hannah Moreno, Javid Mohammed, Mullai Murugan, Jennifer E. Posey, Jimmy H. Wu, Donna Muzny, Richard A. Gibbs, Harsha Doddapaneni   +17 more
doaj   +1 more source