From cytogenetics to next-generation sequencing technologies: advances in the detection of genome rearrangements in tumorsThis paper is one of a selection of papers published in this Special Issue, entitled CSBMCB — Systems and Chemical Biology, and has undergone the Journal's usual peer review process.

2008 ◽  
Vol 86 (2) ◽  
pp. 81-91 ◽  
Author(s):  
Olena Morozova ◽  
Marco A. Marra

Genome rearrangements have long been recognized as hallmarks of human tumors and have been used to diagnose cancer. Techniques used to detect genome rearrangements have evolved from microscopic examinations of chromosomes to the more recent microarray-based approaches. The availability of next-generation sequencing technologies may provide a means for scrutinizing entire cancer genomes and transcriptomes at unparalleled resolution. Here we review the methods that have been used to detect genome rearrangements and discuss the scope and limitations of each approach. We end with a discussion of the potential that next-generation sequencing technologies may offer to the field.

Genes ◽  
2018 ◽  
Vol 9 (10) ◽  
pp. 505
Author(s):  
Manfred Grabherr ◽  
Bozena Kaminska ◽  
Jan Komorowski

The massive increase in computational power over the recent years and wider applicationsof machine learning methods, coincidental or not, were paralleled by remarkable advances inhigh-throughput DNA sequencing technologies.[...]


2019 ◽  
Author(s):  
Bourdon Céline ◽  
Bardou Philippe ◽  
Aujean Etienne ◽  
Le Guillou Sandrine ◽  
Tosser-Klopp Gwenola ◽  
...  

ABSTRACTIn recent years, the increasing use of Next Generation Sequencing technologies to explore the genome has generated large quantities of data. For microRNAs, more and more publications have described several thousand sequences, all species included. In order to obtain a detailed description of microRNAs from the literature for three ruminant species (bovine, caprine and ovine), a new database has been created: RumimiR. To date, 2,887, 2,733 and 5,095 unique microRNAs of bovine, caprine and ovine species, respectively, have been included. In addition to the most recent reference genomic position and sequence of each microRNA, this database contains details on the animals, tissue origins and experimental conditions available from the publications. Identity with human or mouse microRNA is mentioned. The RumimiR database enables data filtering, the selection of microRNAs being based on defined criteria such as animal status or tissue origin. For ruminant studies, RumimiR supplements the widely used miRBase database by browsing and filtering using complementary criteria, and the integration of all published sequences described as novel. The principal goal of this database is to provide easy access to all ruminant microRNAs described in the literature.


2008 ◽  
Vol 18 (10) ◽  
pp. 1638-1642 ◽  
Author(s):  
D. R. Smith ◽  
A. R. Quinlan ◽  
H. E. Peckham ◽  
K. Makowsky ◽  
W. Tao ◽  
...  

2011 ◽  
Vol 16 (11-12) ◽  
pp. 512-519 ◽  
Author(s):  
Peter M. Woollard ◽  
Nalini A.L. Mehta ◽  
Jessica J. Vamathevan ◽  
Stephanie Van Horn ◽  
Bhushan K. Bonde ◽  
...  

Genes ◽  
2018 ◽  
Vol 9 (9) ◽  
pp. 429 ◽  
Author(s):  
Daniela Barros-Silva ◽  
C. Marques ◽  
Rui Henrique ◽  
Carmen Jerónimo

DNA methylation is an epigenetic modification that plays a pivotal role in regulating gene expression and, consequently, influences a wide variety of biological processes and diseases. The advances in next-generation sequencing technologies allow for genome-wide profiling of methyl marks both at a single-nucleotide and at a single-cell resolution. These profiling approaches vary in many aspects, such as DNA input, resolution, coverage, and bioinformatics analysis. Thus, the selection of the most feasible method according with the project’s purpose requires in-depth knowledge of those techniques. Currently, high-throughput sequencing techniques are intensively used in epigenomics profiling, which ultimately aims to find novel biomarkers for detection, diagnosis prognosis, and prediction of response to therapy, as well as to discover new targets for personalized treatments. Here, we present, in brief, a portrayal of next-generation sequencing methodologies’ evolution for profiling DNA methylation, highlighting its potential for translational medicine and presenting significant findings in several diseases.


2021 ◽  
Author(s):  
Ahmed S Fahad ◽  
Cheng Yu Chung ◽  
Sheila N. Lopez Acevedo ◽  
Nicoleen Boyle ◽  
Bharat Madan ◽  
...  

Functional analyses of the T cell receptor (TCR) landscape can reveal critical information about protection from disease and molecular responses to vaccines. However, it has proven difficult to combine advanced next-generation sequencing technologies with methods to decode the peptide-major histocompatibility complex (pMHC) specificity of individual TCRs. Here we developed a new high-throughput approach to enable repertoire-scale functional evaluations of natively paired TCRs. In particular, we leveraged the immortalized nature of physically linked TCRα:β amplicon libraries to analyze binding against multiple recombinant pMHCs on a repertoire scale. To exemplify the utility of this approach, we also performed affinity-based functional mapping in conjunction with quantitative next-generation sequencing to track antigen- specific TCRs. These data successfully validated a new immortalization and screening platform to facilitate detailed molecular analyses of human TCRs against diverse antigen targets associated with health, vaccination, or disease.


2018 ◽  
Vol 15 (2) ◽  
pp. 367-372
Author(s):  
Lê Ngọc Giang ◽  
Lưu Hàn Ly ◽  
Nguyễn Mai Phương ◽  
Lê Tùng Lâm ◽  
Đỗ Thị Huyền ◽  
...  

Microorganisms, particularly bacteria, in the ruminant's rumen are valuable genetic resources that many scientists interested in. In recent years, the application of next-generation sequencing technologies allows direct decoding an extracted DNA metagenome in each ecological community without culture, increasing the efficiency of exploiting interested genes. Notably, the quantity and quality of extracted DNA play an important role in getting a reliable metagenome database. In this study, DNA metagenome from goat rumen fluid was extracted by five different methods RBB (repeated bead beating plus column), RBBC (repeated bead beating), PSP1, PSP2 (PSP®Spin Stool DNA Kit, protocol 1, 2, Germany) và QIA (QIAamp® DNA Stool Mini Kit, Germany). The results showed that DNA metagenome obtained by all methods had A260/280 greater than 1.8. DNA extracted by the RBB method had high DNA concentration but low A260/230 values (less than 1.4) and still contained Taq polymerase inhibitor. After purifying by QIA column, A260/230 values of RBB-extracted DNA significantly increased up to 2.0 and Taq polymerase inhibitor in samples were removed. However, the concentrations decreased by 57% that nearly equivalent to concentration of DNA metagenome obtained by QIA. The method using PSP®Spin Stool DNA kit produced the highest DNA concentrations (from 149.7 to 195.5 ng/µl) with A260/280 ratios of 1.9 and A260/230 ratios of 1.8 to 1.9. Morever, this method was able to remove polymerase inhibitor and be performed on short time. Therefore, the PSP®Spin Stool DNA kit is a suitable method for DNA metagenome extraction of bacteria from goat rumen. DNA obtained by this method fulfilled all criteria about quality and concentration for sequencing by next-generation sequencing Illumina.


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