Myeloma Genetics and Genomics: Practice Implications and Future Directions

2014 ◽  
Vol 14 (6) ◽  
pp. 436-440 ◽  
Author(s):  
Beth Faiman
Keyword(s):  
Future Directions ◽  
Genetics And Genomics

scholarly journals Application of genetics and genomics to aquaculture development: current and future directions

2010 ◽  
Vol 149 (S1) ◽  
pp. 143-151 ◽  
Author(s):  
B. McANDREW ◽  
J. NAPIER
Keyword(s):  
Small Proportion ◽  
Aquatic Organisms ◽  
Current Paper ◽  
Future Directions ◽  
Genetic Gains ◽  
Wide Range ◽  
The Future ◽  
Genetics And Genomics ◽  
Aquaculture Development ◽  
Aquaculture Production

SUMMARYGlobal aquaculture production continues to grow rapidly yet a small proportion of the animals and plants being used come from managed breeding and improvement programmes. The biology of aquatic organisms offer many opportunities for rapid genetic gains as new genetic and genomic techniques make the management of improvement programmes feasible in a wider range of species. The current paper describes the application of a wide range of techniques, many unique to aquatic organisms, and their potential to secure aquaculture production in the future.

scholarly journals Opening the Black Box: Interpretable Machine Learning for Geneticists

2020 ◽  
Author(s):  
Christina B. Azodi ◽  
Jiliang Tang ◽  
Shin-Han Shiu
Keyword(s):  
Machine Learning ◽  
Genomic Data ◽  
Heterogeneous Data ◽  
Black Box ◽  
High Dimensional ◽  
Future Directions ◽  
Making Sense ◽  
Interpretable Machine Learning ◽  
Genetics And Genomics ◽  
Complex Patterns

Machine learning (ML) has emerged as a critical tool for making sense of the growing amount of genetic and genomic data available because of its ability to find complex patterns in high dimensional and heterogeneous data. While the complexity of ML models is what makes them powerful, it also makes them difficult to interpret. Fortunately, recent efforts to develop approaches that make the inner workings of ML models understandable to humans have improved our ability to make novel biological insights using ML. Here we discuss the importance of interpretable ML, different strategies for interpreting ML models, and examples of how these strategies have been applied. Finally, we identify challenges and promising future directions for interpretable ML in genetics and genomics.

scholarly journals Current State and Future Directions of Genetics and Genomics of Endophytic Fungi for Bioprospecting Efforts

2021 ◽  
Vol 9 ◽  
Author(s):  
Rosa Sagita ◽  
Wim J. Quax ◽  
Kristina Haslinger
Keyword(s):  
Secondary Metabolites ◽  
Endophytic Fungi ◽  
Food Additives ◽  
Fungal Endophyte ◽  
Biosynthetic Pathways ◽  
Future Directions ◽  
Isolation And Characterization ◽  
Wide Range ◽  
Fungal Genomes ◽  
Genetics And Genomics

The bioprospecting of secondary metabolites from endophytic fungi received great attention in the 1990s and 2000s, when the controversy around taxol production from Taxus spp. endophytes was at its height. Since then, hundreds of reports have described the isolation and characterization of putative secondary metabolites from endophytic fungi. However, only very few studies also report the genetic basis for these phenotypic observations. With low sequencing cost and fast sample turnaround, genetics- and genomics-based approaches have risen to become comprehensive approaches to study natural products from a wide-range of organisms, especially to elucidate underlying biosynthetic pathways. However, in the field of fungal endophyte biology, elucidation of biosynthetic pathways is still a major challenge. As a relatively poorly investigated group of microorganisms, even in the light of recent efforts to sequence more fungal genomes, such as the 1000 Fungal Genomes Project at the Joint Genome Institute (JGI), the basis for bioprospecting of enzymes and pathways from endophytic fungi is still rather slim. In this review we want to discuss the current approaches and tools used to associate phenotype and genotype to elucidate biosynthetic pathways of secondary metabolites in endophytic fungi through the lens of bioprospecting. This review will point out the reported successes and shortcomings, and discuss future directions in sampling, and genetics and genomics of endophytic fungi. Identifying responsible biosynthetic genes for the numerous secondary metabolites isolated from endophytic fungi opens the opportunity to explore the genetic potential of producer strains to discover novel secondary metabolites and enhance secondary metabolite production by metabolic engineering resulting in novel and more affordable medicines and food additives.

scholarly journals Genetic Predisposition to Neuroblastoma

Children ◽  
2018 ◽  
Vol 5 (9) ◽  
pp. 119 ◽  
Author(s):  
Erin Barr ◽  
Mark Applebaum
Keyword(s):  
Solid Tumor ◽  
Genetic Predisposition ◽  
Clinical Applications ◽  
Phenotypic Heterogeneity ◽  
Current Understanding ◽  
Genomic Research ◽  
Future Directions ◽  
Sporadic Disease ◽  
Genetics And Genomics ◽  
Familial Neuroblastoma

Neuroblastoma is the most common solid tumor in children under the age of one. It displays remarkable phenotypic heterogeneity, resulting in differences in outcomes that correlate with clinical and biologic features at diagnosis. While neuroblastoma accounts for approximately 5% of all cancer diagnoses in pediatrics, it disproportionately results in about 9% of all childhood deaths. Research advances over the decades have led to an improved understanding of neuroblastoma biology. However, the initiating events that lead to the development of neuroblastoma remain to be fully elucidated. It has only been recently that advances in genetics and genomics have allowed researchers to unravel the predisposing factors enabling the development of neuroblastoma and fully appreciate the interplay between the genetics of tumor and host. In this review, we outline the current understanding of familial neuroblastoma and highlight germline variations that predispose children to sporadic disease. We also discuss promising future directions in neuroblastoma genomic research and potential clinical applications for these advances.

Creating Affirmative and Inclusive Practices When Providing Genetic and Genomic Diagnostic and Research Services to Gender-Expansive and Transgender Patients

2020 ◽  
Author(s):  
J Graham Theisen ◽  
Ina E Amarillo
Keyword(s):  
Process Improvement ◽  
Medical Specialty ◽  
Standards Of Care ◽  
Laboratory Sample ◽  
Knowledge Gaps ◽  
Future Directions ◽  
Genetics And Genomics ◽  
Number Of Publications ◽  
Inclusive Processes ◽  
Identity Knowledge

Abstract Background Gender expansive and transgender (GET) healthcare extends beyond gender-affirming therapies, reaching every medical specialty and subspecialty. As the number of GET patients seeking health services has increased, so has the need for standards of care regarding GET-affirmative practices throughout the healthcare system. As such, the number of publications surrounding GET-affirmative practices has steadily risen. However, even as such research has gained ground in other areas, one realm in which there has been a relative lag is genetics and genomics (GG). Content In this article, we track the GET patient and their laboratory sample from the clinic to the GG laboratory and back. Throughout the preanalytical, analytical, and postanalytical phases, we identify publications, recommendations, and guidelines relevant to the care of the GET community. We also identity knowledge gaps in each area and provide recommendations for affirmative and inclusive processes for addressing those gaps. Summary We have identified the practices involved in GG services that would benefit from GET-affirmative process improvement, reviewing relevant affirmative guidelines. Where guidelines could not be found, we identified those knowledge gaps and suggested potential solutions and future directions for implementing GET-affirmative practices.

On Future Directions in Pathology

1982 ◽  
Vol 40 ◽  
pp. 274-277
Author(s):  
Benjamin F. Trump ◽  
Irene K. Berezesky ◽  
Raymond T. Jones
Keyword(s):  
Electron Microscopy ◽  
Transmission Electron Microscopy ◽  
Clinical Pathology ◽  
Future Directions ◽  
Diagnostic Pathology ◽  
The Past ◽  
Transmission Electron ◽  
Organ Systems ◽  
The Many

The role of electron microscopy and associated techniques is assured in diagnostic pathology. At the present time, most of the progress has been made on tissues examined by transmission electron microscopy (TEM) and correlated with light microscopy (LM) and by cytochemistry using both plastic and paraffin-embedded materials. As mentioned elsewhere in this symposium, this has revolutionized many fields of pathology including diagnostic, anatomic and clinical pathology. It began with the kidney; however, it has now been extended to most other organ systems and to tumor diagnosis in general. The results of the past few years tend to indicate the future directions and needs of this expanding field. Now, in addition to routine EM, pathologists have access to the many newly developed methods and instruments mentioned below which should aid considerably not only in diagnostic pathology but in investigative pathology as well.

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