scholarly journals Patents and Genome-Wide DNA Sequence Analysis: Is it Safe to Go into the Human Genome?

2014 ◽  
Vol 42 (S1) ◽  
pp. 42-50 ◽  
Author(s):  
Robert Cook-Deegan ◽  
Subhashini Chandrasekharan
Keyword(s):  
Clinical Applications ◽  
Patent Infringement ◽  
Whole Genome ◽  
Whole Genome Analysis ◽  
Business Decisions ◽  
Gene Patents ◽  
Clinical Laboratories ◽  
Genome Wide ◽  
Human Genes ◽  
Genome Analyses

Whether, and to what degree, do patents granted on human genes cast a shadow of uncertainty over genomics and its applications? Will owners of patents on individual genes or clusters of genes sue those performing whole-genome analyses on human samples for patent infringement? These are related questions that have haunted molecular diagnostics companies and services, coloring scientific, clinical, and business decisions. Can the profusion of whole-genome analysis methods proceed without fear of patent infringement liability?Whole-genome sequencing (WGS) is proceeding apace. Academic centers have been performing whole-genome and -exome sequencing (WES) in research for at least five years, and academic clinical laboratories with national reach have been doing sequencing for clinical applications for almost as long. Companies have also been offering WGS and WES as a clinical service for a few years now. So far as we know, no one has been sued for infringement of “gene patents” for performing WGS.

scholarly journals Modified Oxacillin Resistant Staphylococcus aureus detected in neonatal intensive care patients

2021 ◽  
Author(s):  
Melissa R. Gitman ◽  
Bremy Alburquerque ◽  
Adriana van de Guchte ◽  
Mitchell J. Sullivan ◽  
Ajay Obla ◽  
...  
Keyword(s):  
Staphylococcus Aureus ◽  
Intensive Care ◽  
Neonatal Intensive Care ◽  
Methicillin Resistance ◽  
Nonsynonymous Substitution ◽  
Whole Genome ◽  
Penicillin Binding Protein ◽  
Whole Genome Analysis ◽  
Intensive Care Patients ◽  
Clinical Laboratories

AbstractActive surveillance in our neonatal intensive care unit identified Staphylococcus aureus cultures from two infants with heterogeneity in methicillin resistance between isolated subclones lacking mecA and mecC. Whole-genome analysis of 4 modified (MODSA) and 4 methicillin-susceptible (MSSA) subclones for each culture identified either truncating mutations in the cyclic diadenosine monophosphate phosphodiesterase enzyme (GdpP), or a nonsynonymous substitution in penicillin binding protein 2 (PBP2). These cases highlight the difficulty in identifying non-mecA/non-mecC-mediated methicillin-resistance in clinical laboratories.

scholarly journals Genome-wide microsatellites and species specific markers in genus Phytophthora revealed through whole genome analysis

3 Biotech ◽  
2020 ◽  
Vol 10 (10) ◽  
Author(s):  
Deepu Mathew ◽  
P. S. Anju ◽  
Amala Tom ◽  
Neethu Johnson ◽  
M. Lidia George ◽  
...  
Keyword(s):  
Genome Analysis ◽  
Whole Genome ◽  
Whole Genome Analysis ◽  
Genome Wide ◽  
Species Specific

scholarly journals Whole-genome analysis of Malawian Plasmodium falciparum isolates identifies potential targets of allele-specific immunity to clinical malaria

2020 ◽  
Author(s):  
Zalak Shah ◽  
Myo T Naung ◽  
Kara A Moser ◽  
Matthew Adams ◽  
Andrea G Buchwald ◽  
...  
Keyword(s):  
Plasmodium Falciparum ◽  
Sequence Data ◽  
Clinical Malaria ◽  
Whole Genome Sequence ◽  
Whole Genome ◽  
Whole Genome Analysis ◽  
Multiple Alleles ◽  
Vaccine Candidates ◽  
Genome Wide ◽  
Allele Specific

Individuals acquire immunity to clinical malaria after repeated Plasmodium falciparum infections. This immunity to disease is thought to reflect the acquisition of a repertoire of responses to multiple alleles in diverse parasite antigens. In previous studies, we identified polymorphic sites within individual antigens that are associated with parasite immune evasion by examining antigen allele dynamics in individuals followed longitudinally. Here we expand this approach by analyzing genome-wide polymorphisms using whole genome sequence data from 140 parasite isolates representing malaria cases from a longitudinal study in Malawi and identify 25 genes that encode likely targets of naturally acquired immunity and that should be further characterized for their potential as vaccine candidates.

scholarly journals First Indian report on Genome-wide Comparison of Multidrug-ResistantEscherichia colifrom Blood Stream Infections

2019 ◽  
Author(s):  
Naveen Kumar Devanga Ragupathi ◽  
Balaji Veeraraghavan ◽  
Dhiviya Prabaa Muthuirulandi Sethuvel ◽  
Shalini Anandan ◽  
Karthick Vasudevan ◽  
...  
Keyword(s):  
Virulence Gene ◽  
Carbapenem Resistance ◽  
Blood Stream ◽  
Genome Comparison ◽  
Whole Genome ◽  
Gene Profile ◽  
Aminoglycoside Resistance ◽  
Whole Genome Analysis ◽  
E Coli ◽  
Genome Wide

AbstractBackgroundMultidrug-resistant (MDR)E. coliwith extended-spectrum β-lactamases (ESBLs) is becoming endemic in health care settings around the world. Baseline data on virulence and AMR of specific lineages ofE. colicirculating in developing countries like India is currently lacking.MethodsWhole-genome sequencing was performed for 60 MDRE. coliisolates. Genome-wide analysis was performed at single nucleotide polymorphism (SNP) level resolution to identify the relation between the isolates in context of time, virulence and AMR determinants possessed.ResultsGenome comparison revealed the presence of ST-131 global MDR and ST410 as emerging-MDR clades ofE. coli. AMR gene profile for cephalosporin and carbapenem resistance differed between the clades. GenotypesblaCTX-M-15andblaNDM-5were common among cephalosporinases and carbapenemases, respectively. For aminoglycoside resistance,rmtBwas positive for 31.7% of the isolates, of which 30% were co-harboring carbapenemases. Further, the FimH types and virulence gene profile positively correlated with the SNP based phylogeny, which also revealed the evolution of MDR clones among the study population with temporal accumulation of SNPs. The predominant clone was ST167 (blaNDMlineage) followed by ST405 (global clone ST131 equivalent) and ST410 (fast spreading high risk clone).ConclusionsThis is the first report on the whole genome analysis of MDRE. colilineages circulating in India. Data from this study will provide public health agencies a baseline portfolio of AMR and virulence in pathogenicE. coliin the region.

scholarly journals RIdeogram: drawing SVG graphics to visualize and map genome-wide data on the idiograms

2020 ◽  
Vol 6 ◽  
pp. e251 ◽  
Author(s):  
Zhaodong Hao ◽  
Dekang Lv ◽  
Ying Ge ◽  
Jisen Shi ◽  
Dolf Weijers ◽  
...  
Keyword(s):  
Gc Content ◽  
R Package ◽  
Whole Genome ◽  
Data Mapping ◽  
Data Types ◽  
Model Species ◽  
Chromosomal Distribution ◽  
Whole Genome Analysis ◽  
Genome Wide ◽  
Genome Wide Data

Background Owing to the rapid advances in DNA sequencing technologies, whole genome from more and more species are becoming available at increasing pace. For whole-genome analysis, idiograms provide a very popular, intuitive and effective way to map and visualize the genome-wide information, such as GC content, gene and repeat density, DNA methylation distribution, genomic synteny, etc. However, most available software programs and web servers are available only for a few model species, such as human, mouse and fly, or have limited application scenarios. As more and more non-model species are sequenced with chromosome-level assembly being available, tools that can generate idiograms for a broad range of species and be capable of visualizing more data types are needed to help better understanding fundamental genome characteristics. Results The R package RIdeogram allows users to build high-quality idiograms of any species of interest. It can map continuous and discrete genome-wide data on the idiograms and visualize them in a heat map and track labels, respectively. Conclusion The visualization of genome-wide data mapping and comparison allow users to quickly establish a clear impression of the chromosomal distribution pattern, thus making RIdeogram a useful tool for any researchers working with omics.

scholarly journals Tenacibaculum piscium sp. nov., isolated from skin ulcers of sea-farmed fish, and description of Tenacibaculum finnmarkense sp. nov. with subdivision into genomovars finnmarkense and ulcerans

2020 ◽  
Vol 70 (12) ◽  
pp. 6079-6090 ◽  
Author(s):  
Anne Berit Olsen ◽  
Bjørn Spilsberg ◽  
Hanne K. Nilsen ◽  
Karin Lagesen ◽  
Snorre Gulla ◽  
...  
Keyword(s):  
Type Strain ◽  
Type Species ◽  
Large Scale ◽  
Whole Genome ◽  
Farmed Fish ◽  
Whole Genome Analysis ◽  
Content Type ◽  
Link Type ◽  
Phylogenetic Lineages ◽  
Genome Analyses

Results of previous multilocus sequence and whole-genome-based analyses have suggested that a homogeneous group of isolates belonging to the genus Tenacibaculum , represented by strain TNO020T and associated with skin ulcer development in sea-farmed fish, represents an as-yet-undescribed species. Comparative whole-genome analysis performed in the present study clustered five isolates, including TNO020T, in a distinct lineage within the genus Tenacibaculum . Phenotypic differences, high intra-cluster average nucleotide identity (ANI) values and low ANI values with other Tenacibaculum species support the proposal of a novel species, for which we propose the name Tenacibaculum piscium sp. nov. with strain TNO020T (=CCUG 73833T=NCIMB 15240T) as the type strain. Further, large-scale genome analyses confirmed the existence of two different phylogenetic lineages within ‘ T. finnmarkense ’, a species effectively but not validly published previously. ANI values just above the species delineation threshold of 95–96 % confirmed that both lineages belong to the same species. This result was also supported by DNA–DNA hybridization values. Phenotypically, the two conspecific lineages are distinguishable by differences in growth temperature range and ability to degrade l-proline. For the group of isolates already commonly known as ‘ T. finnmarkense ’, we propose the name Tenacibaculum finnmarkense sp. nov., with strain TNO006T (=CCUG 73831T=NCIMB 15238T) as the type strain. We further propose the subdivision of T. finnmarkense sp. nov. into two genomovars, T. finnmarkense genomovar finnmarkense with strain TNO006T (=CCUG 73831T=NCIMB 15238T) as the type strain and T. finnmarkense genomovar ulcerans with strain TNO010T (=CCUG 73832T=NCIMB 15239T) as the type strain.

scholarly journals Comprehensive Draft Genome Analyses of Three Rockfishes (Scorpaeniformes, Sebastiscus) via Genome Survey Sequencing

2021 ◽  
Vol 43 (3) ◽  
pp. 2048-2058
Author(s):  
Chenghao Jia ◽  
Tianyan Yang ◽  
Takashi Yanagimoto ◽  
Tianxiang Gao
Keyword(s):  
Phylogenetic Analyses ◽  
Complete Mitochondrial Genome ◽  
Economic Value ◽  
Draft Genome ◽  
Whole Genome ◽  
Genome Sequences ◽  
Genome Data ◽  
Genome Survey ◽  
Genome Wide ◽  
Genome Analyses

Sebastiscus species, marine rockfishes, are of essential economic value. However, the genomic data of this genus is lacking and incomplete. Here, whole genome sequencing of all species of Sebastiscus was conducted to provide fundamental genomic information. The genome sizes were estimated to be 802.49 Mb (S. albofasciatus), 786.79 Mb (S. tertius), and 776.00 Mb (S. marmoratus) by using k-mer analyses. The draft genome sequences were initially assembled, and genome-wide microsatellite motifs were identified. The heterozygosity, repeat ratios, and numbers of microsatellite motifs all suggested possibly that S. tertius is more closely related to S. albofasciatus than S. marmoratus at the genetic level. Moreover, the complete mitochondrial genome sequences were assembled from the whole genome data and the phylogenetic analyses genetically supported the validation of Sebastiscus species. This study provides an important genome resource for further studies of Sebastiscus species.

scholarly journals Application of Whole-Genome Sequencing to an Unusual Outbreak of Invasive Group A Streptococcal Disease

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Jessica Galloway-Peña ◽  
Meredith E. Clement ◽  
Batu K. Sharma Kuinkel ◽  
Felicia Ruffin ◽  
Anthony R. Flores ◽  
...  
Keyword(s):  
Point Source ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Genome Analysis ◽  
Whole Genome ◽  
Whole Genome Analysis ◽  
Invasive Group ◽  
Streptococcal Disease ◽  
Group A ◽  
Genome Analyses

Abstract Whole-genome analysis was applied to investigate atypical point-source transmission of 2 invasive group A streptococcal (GAS) infections. Isolates were serotype M4, ST39, and genetically indistinguishable. Comparison with MGAS10750 revealed nonsynonymous polymorphisms in ropB and increased speB transcription. This study demonstrates the usefulness of whole-genome analyses for GAS outbreaks.

scholarly journals RIdeogram: drawing SVG graphics to visualize and map genome-wide data on the idiograms

2019 ◽  
Author(s):  
Zhaodong Hao ◽  
Dekang Lv ◽  
Ying Ge ◽  
Jisen Shi ◽  
Dolf Weijers ◽  
...  
Keyword(s):  
Gc Content ◽  
R Package ◽  
Whole Genome ◽  
Data Mapping ◽  
Model Species ◽  
Chromosomal Distribution ◽  
Whole Genome Analysis ◽  
Sequencing Technologies ◽  
Genome Wide ◽  
Genome Wide Data

Background: Owing to the rapid advances in DNA sequencing technologies, whole genome from more and more species are becoming available at increasing pace. For whole-genome analysis, idiograms provide a very popular, intuitive and effective way to map and visualize the genome-wide information, such as GC content, gene and repeat density, DNA methylation distribution, etc. However, most available software programs and web servers are available only for a few model species, such as human, mouse and fly. As boundaries between model and non-model species are shifting, tools are urgently needs to generate idiograms for a broad range of species are needed to help better understanding fundamental genome characteristics. Results: The R package RIdeogram allows users to build high-quality idiograms of any species of interest. It can map continuous and discrete genome-wide data on the idiograms and visualize them in a heat map and track labels, respectively. Conclusion: The visualization of genome-wide data mapping and comparison allow users to quickly establish a clear impression of the chromosomal distribution pattern, thus making RIdeogram a useful tool for any researchers working with omics.

scholarly journals Genomic Analysis of an Indian G8P[1] Caprine Rotavirus-A Strain Revealing Artiodactyl and DS-1-Like Human Multispecies Reassortment

2021 ◽  
Vol 7 ◽  
Author(s):  
Shubhankar Sircar ◽  
Yashpal Singh Malik ◽  
Prashant Kumar ◽  
Mohd Ikram Ansari ◽  
Sudipta Bhat ◽  
...  
Keyword(s):  
Genomic Analysis ◽  
Complex Nature ◽  
Whole Genome ◽  
Structural Genes ◽  
Whole Genome Analysis ◽  
Surveillance Studies ◽  
Rotavirus A ◽  
Health Significance ◽  
Genome Analyses

The surveillance studies for the presence of caprine rotavirus A (RVA) are limited in India, and the data for the whole-genome analysis of the caprine RVA is not available. This study describes the whole-genome-based analysis of a caprine rotavirus A strain, RVA/Goat-wt/IND/K-98/2015, from a goat kid in India. The genomic analysis revealed that the caprine RVA strain K-98, possess artiodactyl-like and DS-1 human-like genome constellation G8P[1]-I2-R2-C2-M2-A3-N2-T6-E2-H3. The three structural genes (VP2, VP4, and VP7) were close to caprine host having nucleotide-based identity range between 97.5 and 98.9%. Apart from them, other gene segments showed similarity with either bovine or human like genes, ultimately pointing toward a common evolutionary origin having an artiodactyl-type backbone of strain K-98. Phylogenetically, the various genes of the current study isolate also clustered inside clades comprising Human-Bovine-Caprine isolates from worldwide. The current findings add to the knowledge on caprine rotaviruses and might play a substantial role in designing future vaccines or different alternative strategies combating such infections having public health significance. To the best of our knowledge, this is the first report on the whole-genome characterization of a caprine RVA G8P[1] strain from India. Concerning the complex nature of the K-98 genome, whole-genome analyses of more numbers of RVA strains from different parts of the country are needed to comprehend the genomic nature and genetic diversity among caprine RVA.

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