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Genetic algorithms in medicine

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https://www.readbyqxmd.com/read/29144791/is-there-a-role-for-programmed-death-ligand-1-testing-and-immunotherapy-in-colorectal-cancer-with-microsatellite-instability-part-i-colorectal-cancer-microsatellite-instability-testing-and-clinical-implications
#1
Esmeralda Celia Marginean, Barbara Melosky
CONTEXT: - Colorectal cancer (CRC) represents the third most-common cancer in developed countries and is a leading cause of cancer deaths worldwide. Two recognized pathways contribute to CRC development: a more-common chromosomal instability pathway and, in 15% of cases, a deficient mismatch repair or microsatellite instability-high (MSI-H) pathway. The MSI-H CRC can be associated with somatic or germline mutations. Microsatellite status has been recognized as a prognostic and predictive biomarker...
November 16, 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29127892/estimation-of-the-late-postmortem-interval-using-ftir-spectroscopy-and-chemometrics-in-human-skeletal-remains
#2
Qi Wang, Yinming Zhang, Hancheng Lin, Shuai Zha, Ruoxi Fang, Xin Wei, Shuanliang Fan, Zhenyuan Wang
Due to a lack of reliable and accurate methods, determining the postmortem interval (PMI) of human skeletal remains is one of the most important and challenging tasks in forensic medicine. In this paper, we studied the changes to bone chemistry with increasing PMI in two different experimental conditions using Fourier transform infrared (FTIR) spectroscopy in conjunction with chemometrics methods Paired bone samples collected from 56 human corpses were buried (placed in soil) and unburied (exposed to the air) for intervals between 76 and 552 days...
November 8, 2017: Forensic Science International
https://www.readbyqxmd.com/read/29109033/predicting-and-analyzing-early-wake-up-associated-gene-expressions-by-integrating-gwas-and-eqtl-studies
#3
JiaRui Li, Tao Huang
Circadian rhythms are endogenous 24-hour rhythmic oscillations affecting human behaviors, such as sleep, blood pressure and other biological processes, the disturbance of which lead to circadian rhythm sleep disorders (CRSDs). In this study, based on the data from genome-wide association studies (GWASs) and expression quantitative trait loci (eQTLs), we tried to identify novel gene expression patterns in brain tissues that were associated with early wake-up. First, the maximum-relevance-minimum-redundancy (mRMR) method was adopted to analyze the involved gene expression patterns, yielding a feature list...
November 3, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29080241/next-generation-sequencing-in-pediatric-hepatology-and-liver-transplantation
#4
REVIEW
Emanuele Nicastro, Lorenzo D'Antiga
Next Generation Sequencing (NGS) has revolutionized the analysis of human genetic variations, offering a highly cost-effective way to diagnose monogenic diseases (MDs). Since nearly half of children with chronic liver disorders have a genetic cause and approximately 20% of pediatric liver transplants are performed in children with MDs, NGS offers the opportunity to significantly improve the diagnostic yield in this field. Among the NGS strategies, the use of targeted gene panels has proven useful to rapidly and reliably confirm a clinical suspicion, whereas the whole exome sequencing (WES) with variants filtering has been adopted to assist the diagnostic work up in unclear clinical scenarios...
October 28, 2017: Liver Transplantation
https://www.readbyqxmd.com/read/29069390/crimetoyhu-a-new-web-tool-to-develop-yeast-based-functional-assays-for-characterizing-cancer-associated-missense-variants
#5
Alberto Mercatanti, Samuele Lodovichi, Tiziana Cervelli, Alvaro Galli
Evaluation of functional impact of cancer-associated missense variants is more difficult to assess as compared to protein-truncating mutations and, consequently, standard guidelines for the interpretation of sequence variants have been recently proposed. A number of algorithms and software products were developed to predict the impact of cancer-associated missense mutations on protein structure and function. Importantly, direct assessment of the variants using high-throughput functional assays using simple genetic systems can help in speeding up the functional evaluation of newly identified cancer associated variants...
October 23, 2017: FEMS Yeast Research
https://www.readbyqxmd.com/read/29039378/dna-encoding-training-using-3d-gesture-interaction
#6
Stelian Nicola, Flavia-Laura Handrea, Mihaela Crişan-Vida, Lăcrămioara Stoicu-Tivadar
The work described in this paper summarizes the development process and presents the results of a human genetics training application, studying the 20 amino acids formed by the combination of the 3 nucleotides of DNA targeting mainly medical and bioinformatics students. Currently, the domain applications using recognized human gestures of the Leap Motion sensor are used in molecules controlling and learning from Mendeleev table or in visualizing the animated reactions of specific molecules with water. The novelty in the current application consists in using the Leap Motion sensor creating new gestures for the application control and creating a tag based algorithm corresponding to each amino acid, depending on the position in the 3D virtual space of the 4 nucleotides of DNA and their type...
2017: Studies in Health Technology and Informatics
https://www.readbyqxmd.com/read/29029584/evidence-for-genetic-risk-contributing-to-long-term-adverse-treatment-effects-in-childhood-cancer-survivors
#7
Maria Monica Gramatges, Smita Bhatia
Survivors of childhood cancer are at increased risk for therapy-related morbidities and mortality. Although the demographic and clinical factors predicting the risk for long-term effects of cancer therapy are well known, the impact of genetic risk for specific late effects is less clearly defined. Here, we review the extant literature and recent research describing genetic modifiers to risk for the more common late effects of childhood cancer therapy. Results of this research support the need for clinical trials that attempt to further refine risk prediction by incorporating genetic testing into existing algorithms that are primarily based on clinical and demographic factors...
October 13, 2017: Annual Review of Medicine
https://www.readbyqxmd.com/read/29021832/pharmacogenomics-in-the-treatment-of-mood-disorders-strategies-and-opportunities-for-personalized-psychiatry
#8
REVIEW
Azmeraw T Amare, Klaus Oliver Schubert, Bernhard T Baune
Personalized medicine (personalized psychiatry in a specific setting) is a new model towards individualized care, in which knowledge from genomics and other omic pillars (microbiome, epigenomes, proteome, and metabolome) will be combined with clinical data to guide efforts to new drug development and targeted prescription of the existing treatment options. In this review, we summarize pharmacogenomic studies in mood disorders that may lay the foundation towards personalized psychiatry. In addition, we have discussed the possible strategies to integrate data from omic pillars as a future path to personalized psychiatry...
September 2017: EPMA Journal
https://www.readbyqxmd.com/read/29020033/genotype-combination-contributes-to-psoriasis-an-exhaustive-algorithm-perspective
#9
Jinfa Dou, Huimin Guo, Fang Cheng, Hequn Huang, Liying Fu, Longnian Li, Chao Yang, Lei Ye, Leilei Wen, Yuyan Cheng, Lili Tang, Caihong Zhu, Zhengwei Zhu, Wenjun Wang, Yujun Sheng, Zaixing Wang, Shengxiu Liu, Xing Fan, Xianbo Zuo, Fusheng Zhou, Liangdan Sun, Xiaodong Zheng, Xuejun Zhang
Researchers have learned that nearly all conditions and diseases have a genetic component. With the benefit of technological advances, many single-nucleotide polymorphisms (SNPs) have been found to be associated with the risk of complex disorders by using genome wide association studies (GWASs). Disease-associated SNPs are sometimes shared by healthy controls and cannot clearly distinguish affected individuals from unaffected ones. The combined effects of multiple independent SNPs contribute to the disease process, but revealing the relationship between genotype and phenotype based on the combinations remains a great challenge...
2017: PloS One
https://www.readbyqxmd.com/read/28968850/epigenetic-regulation-of-gene-expression-in-cancer-techniques-resources-and-analysis
#10
Luciane T Kagohara, Genevieve L Stein-O'Brien, Dylan Kelley, Emily Flam, Heather C Wick, Ludmila V Danilova, Hariharan Easwaran, Alexander V Favorov, Jiang Qian, Daria A Gaykalova, Elana J Fertig
Cancer is a complex disease, driven by aberrant activity in numerous signaling pathways in even individual malignant cells. Epigenetic changes are critical mediators of these functional changes that drive and maintain the malignant phenotype. Changes in DNA methylation, histone acetylation and methylation, noncoding RNAs, posttranslational modifications are all epigenetic drivers in cancer, independent of changes in the DNA sequence. These epigenetic alterations were once thought to be crucial only for the malignant phenotype maintenance...
August 11, 2017: Briefings in Functional Genomics
https://www.readbyqxmd.com/read/28963061/simplifying-the-use-of-pharmacogenomics-in-clinical-practice-building-the-genomic-prescribing-system
#11
Keith Danahey, Brittany A Borden, Brian Furner, Patrick Yukman, Sheena Hussain, Donald Saner, Samuel L Volchenboum, Mark J Ratain, Peter H O'Donnell
BACKGROUND: A barrier to the use of genomic information during prescribing is the limited number of software solutions that combine a user-friendly interface with complex medical data. We built and designed an online, secure, electronic custom interface termed the Genomic Prescribing System (GPS). METHODS: Actionable pharmacogenomic (PGx) information was reviewed, collected, and stored in the back-end of GPS to enable creation of customized drug- and variant-specific clinical decision support (CDS) summaries...
September 26, 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/28935152/i-ching-dyadic-groups-of-binary-numbers-and-the-geno-logic-coding-in-living-bodies
#12
REVIEW
Zhengbing Hu, Sergey V Petoukhov, Elena S Petukhova
The ancient Chinese book I-Ching was written a few thousand years ago. It introduces the system of symbols Yin and Yang (equivalents of 0 and 1). It had a powerful impact on culture, medicine and science of ancient China and several other countries. From the modern standpoint, I-Ching declares the importance of dyadic groups of binary numbers for the Nature. The system of I-Ching is represented by the tables with dyadic groups of 4 bigrams, 8 trigrams and 64 hexagrams, which were declared as fundamental archetypes of the Nature...
September 18, 2017: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/28932243/sensitive-wavelengths-selection-in-identification-of-ophiopogon-japonicus-based-on-near-infrared-hyperspectral-imaging-technology
#13
Zhengyan Xia, Chu Zhang, Haiyong Weng, Pengcheng Nie, Yong He
Hyperspectral imaging (HSI) technology has increasingly been applied as an analytical tool in fields of agricultural, food, and Traditional Chinese Medicine over the past few years. The HSI spectrum of a sample is typically achieved by a spectroradiometer at hundreds of wavelengths. In recent years, considerable effort has been made towards identifying wavelengths (variables) that contribute useful information. Wavelengths selection is a critical step in data analysis for Raman, NIRS, or HSI spectroscopy. In this study, the performances of 10 different wavelength selection methods for the discrimination of Ophiopogon japonicus of different origin were compared...
2017: International Journal of Analytical Chemistry
https://www.readbyqxmd.com/read/28898880/personalized-management-of-cardiovascular-disorders
#14
Kewal K Jain
Personalized management of cardiovascular disorders (CVDs), also referred to as personalized or precision cardiology in accordance with general principles of personalized medicine, is the selection of best treatment for an individual patient. It involves the integration of various 'omics' technologies such as genomics and proteomics as well as other new technologies such as nanobiotechnology. Molecular diagnostics and biomarkers are important for linking diagnosis with therapy and monitoring of therapy. Because CVDs involve perturbations of large complex biological networks, a systems biology approach to CVD risk stratification may be used for improving risk-estimating algorithms and modeling of personalized benefit-of-treatment may be helpful for guiding choice of intervention...
September 11, 2017: Medical Principles and Practice: International Journal of the Kuwait University, Health Science Centre
https://www.readbyqxmd.com/read/28885622/adult-onset-autoimmune-diabetes-current-knowledge-and-implications-for-management
#15
REVIEW
Raffaella Buzzetti, Simona Zampetti, Ernesto Maddaloni
Adult-onset autoimmune diabetes is a heterogeneous disease that is characterized by a reduced genetic load, a less intensive autoimmune process and a mild metabolic decompensation at onset compared with young-onset type 1 diabetes mellitus (T1DM). The majority of patients with adult-onset autoimmune diabetes do not require insulin treatment for at least 6 months after diagnosis. Such patients are defined as having latent autoimmune diabetes in adults (LADA), which is distinct from classic adult-onset T1DM. The extensive heterogeneity of adult-onset autoimmune diabetes is apparent beyond the distinction between classic adult-onset T1DM and LADA...
November 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28875852/molecular-modeling-studies-of-novel-fluoroquinolone-molecules
#16
Naresh Kumar Katari, Tejeswara Rao Allaka, Venkataramireddy Veeramreddy, Jaya Shree Anireddy
BACKGROUND: Fluoroquinolones have been the centre of considerable scientific and clinical interest due to their broad spectrum pharmacological activities. Pefloxacin is an analogue of norfloxacin, which is a 3rd generation of fluoroquinolone [5] antibiotic similar to ciprofloxacin. Pefloxacin is used to treat a variety of bacterial infections like respiratory tract, ear, nose and throat (ENT) infections, skin infections, urinary tract infections. Hydrazone as a pharmacophore unit that attract the medicinal chemists because of structure activity relationship (SAR) studies of fluoroquinolones especially the functionality at C-3 position...
August 29, 2017: Current Drug Discovery Technologies
https://www.readbyqxmd.com/read/28854079/identification-of-patients-with-statin-intolerance-in-a-managed-care-plan-a-comparison-of-2-claims-based-algorithms
#17
Brandon K Bellows, Amy M Sainski-Nguyen, Cody J Olsen, Susan H Boklage, Scott Charland, Matthew P Mitchell, Diana I Brixner
BACKGROUND: While statins are safe and efficacious, some patients may experience statin intolerance or treatment-limiting adverse events. Identifying patients with statin intolerance may allow optimal management of cardiovascular event risk through other strategies. Recently, an administrative claims data (ACD) algorithm was developed to identify patients with statin intolerance and validated against electronic medical records. However, how this algorithm compared with perceptions of statin intolerance by integrated delivery networks remains largely unknown...
September 2017: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/28838408/crohn-s-disease-genetics-update
#18
REVIEW
Ming-Hsi Wang, Michael F Picco
Since the discovery of the first Crohn's disease (CD) gene NOD2 in 2001, 140 genetic loci have been found in whites using high-throughput genome-wide association studies. Several genes influence the CD subphenotypes and treatment response. With the observations of increasing prevalence in Asia and developing countries and the incomplete explanation of CD variance, other underexplored areas need to be integrated through novel methodologies. Algorithms that incorporate specific genetic risk alleles with other biomarkers will be developed and used to predict CD disease course, complications, and response to specific therapies, allowing precision medicine to become real in CD...
September 2017: Gastroenterology Clinics of North America
https://www.readbyqxmd.com/read/28800528/comparison-of-three-officinal-species-of-callicarpa-based-on-a-biochemome-profiling-strategy-with-uhplc-it-ms-and-chemometrics-analysis
#19
Meng-Lu Chen, Wen-Qi Chang, Jian-Liang Zhou, Ying-Hao Yin, Wen-Rui Xia, Jian-Qun Liu, Li-Fang Liu, Gui-Zhong Xin
Traditional Chinese medicine (TCM) materials with closely related species are frequently fungible in clinical use. Therefore, holistic comparison of the composition in bioactive compounds is essential to evaluate whether they are equivalent in efficacy. Taking three officinal species of Callicarpa as a case, we proposed and validated a standardized strategy for the discrimination of closely related TCM materials, which focused on the extraction, profiling and multivariate statistical analysis of their biochemome...
October 25, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28737713/quality-assessment-of-gentiana-rigescens-from-different-geographical-origins-using-ft-ir-spectroscopy-combined-with-hplc
#20
Zhe Wu, Yanli Zhao, Ji Zhang, Yuanzhong Wang
Gentiana rigescens is a precious herbal medicine in China because of its liver-protective and choleretic effects. A method for the qualitative identification and quantitative evaluation of G. rigescens from Yunnan Province, China, has been developed employing Fourier transform infrared (FT-IR) spectroscopy and high performance liquid chromatography (HPLC) with the aid of chemometrics such as partial least squares discriminant analysis (PLS-DA) and support vector machines (SVM) regression. Our results indicated that PLS-DA model could efficiently discriminate G...
July 24, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
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