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Personal genomics

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https://www.readbyqxmd.com/read/29152902/the-genetics-of-human-personality
#1
REVIEW
Sandra Sanchez-Roige, Joshua C Gray, James K MacKillop, Chi-Hua Chen, Abraham A Palmer
Personality traits are the relatively enduring patterns of thoughts, feelings, and behaviors that reflect the tendency to respond in certain ways under certain circumstances. Twin and family studies have demonstrated that personality traits are moderately heritable, and can predict various lifetime outcomes, including psychopathology. The Research Domain Criteria (RDoC) characterizes psychiatric diseases as extremes of normal tendencies, including specific personality traits. This implies that heritable variation in personality traits, such as neuroticism, would share a common genetic basis with psychiatric diseases, such as major depressive disorder (MDD)...
November 20, 2017: Genes, Brain, and Behavior
https://www.readbyqxmd.com/read/29151820/name-it-store-it-protect-it-a-systems-approach-to-managing-data-in-research-core-facilities
#2
REVIEW
Matthew DeVries, Michael Fenchel, R E Fogarty, Byong-Do Kim, Daniel Timmons, A Nicole White
As the capabilities of technology increase, so do the production of data and the need for data management. The need for data storage at many academic institutions is increasing exponentially. Technology is expanding rapidly, and institutions are recognizing the need to incorporate data management that can be available for future data sharing as a critical component of institutional services. The establishment of a process to manage the surge in data storage is complex and often hindered by not having a plan...
November 2, 2017: Journal of Biomolecular Techniques: JBT
https://www.readbyqxmd.com/read/29150191/-big-data-generalities-and-integration-in-radiotherapy
#3
C Le Fèvre, L Poty, G Noël
The many advances in data collection computing systems (data collection, database, storage), diagnostic and therapeutic possibilities are responsible for an increase and a diversification of available data. Big data offers the capacities, in the field of health, to accelerate the discoveries and to optimize the management of patients by combining a large volume of data and the creation of therapeutic models. In radiotherapy, the development of big data is attractive because data are very numerous et heterogeneous (demographics, radiomics, genomics, radiogenomics, etc...
November 14, 2017: Cancer Radiothérapie: Journal de la Société Française de Radiothérapie Oncologique
https://www.readbyqxmd.com/read/29150002/gene-editing-and-crispr-therapeutics-strategies-taught-by-cell-and-gene-therapy
#4
Juan C Ramirez
A few years ago, we assisted in the demonstration for the first time of the revolutionary idea of a type of adaptive-immune system in the bacteria kingdom. This system, named CRISPR, and variants engineered in the lab, have been demonstrated as functional with extremely high frequency and fidelity in almost all eukaryotic cells studied to date. The capabilities of this RNA-guided nuclease have added to the interest that was announced with the advent of previous technologies for genome editing tools, such as ZFN and TALEN...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29149222/personalized-medicine-and-hispanic-health-improving-health-outcomes-and-reducing-health-disparities-a-national-heart-lung-and-blood-institute-workshop-report
#5
M Larissa Avilés-Santa, John Heintzman, Nangel M Lindberg, Rafael Guerrero-Preston, Kenneth Ramos, Ana L Abraído-Lanza, Jonca Bull, Adolph Falcón, Mary Ann McBurnie, Ernest Moy, George Papanicolaou, Ileana L Piña, Jennifer Popovic, Shakira F Suglia, Miguel A Vázquez
Persons of Hispanic/Latino descent may represent different ancestries, ethnic and cultural groups and countries of birth. In the U.S., the Hispanic/Latino population is projected to constitute 29% of the population by 2060. A personalized approach focusing on individual variability in genetics, environment, lifestyle and socioeconomic determinants of health may advance the understanding of some of the major factors contributing to the health disparities experienced by Hispanics/Latinos and other groups in the U...
2017: BMC Proceedings
https://www.readbyqxmd.com/read/29149131/genetics-and-genomics-an-oncology-nurse-s-journey-in-practice
#6
Suzanne M Mahon
BACKGROUND: Cancer genetics and genomics are now an integral component of oncology care. Genetics and genomics guide recommendations not only for cancer prevention and early detection, but also for cancer treatment. 
. OBJECTIVES: This article documents the personal experiences of an oncology nurse who has worked in cancer prevention and early detection since the 1990s and describes the many changes that have occurred in cancer-related genetic and genomic care during that time...
December 1, 2017: Clinical Journal of Oncology Nursing
https://www.readbyqxmd.com/read/29145603/accuracy-of-next-generation-sequencing-for-molecular-diagnosis-in-patients-with-infantile-nystagmus-syndrome
#7
John Hoon Rim, Seung-Tae Lee, Heon Yung Gee, Byung Joo Lee, Jong Rak Choi, Hye Won Park, Sueng-Han Han, Jinu Han
Importance: Infantile nystagmus syndrome (INS) is a group of disorders presenting with genetic and clinical heterogeneities that have challenged the genetic and clinical diagnoses of INS. Precise molecular diagnosis in early infancy may result in more accurate genetic counseling and improved patient management. Objective: To assess the accuracy of genomic data from next-generation sequencing (NGS) and phenotypic data to enhance the definitive diagnosis of INS. Design, Setting, and Participants: A single-center retrospective case series was conducted in 48 unrelated, consecutive patients with INS, with or without associated ocular or systemic conditions, who underwent genetic testing between June 1, 2015, and January 31, 2017...
November 16, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/29141854/a-p53-deficiency-gene-signature-predicts-recurrence-risk-of-patients-with-early-stage-lung-adenocarcinoma
#8
Yanding Zhao, Frederick S Varn, Guoshuai Cai, Feifei Xiao, Christopher I Amos, Chao Cheng
BACKGROUND: Lung cancer is associated with the highest mortality rate of all cancer types, and the most common histological subtype of lung cancer is adenocarcinoma. In order to apply more effective therapeutic treatment, molecular markers that are able to predict the recurrence risk of patients with adenocarcinoma are critically needed. Mutations in TP53 tumor suppressor gene have been found in approximately 50% of lung adenocarcinoma cases, but the presence of a TP53 mutation does not always associate with increased mortality...
November 15, 2017: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#9
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29138870/insig2-rs7566605-single-nucleotide-variant-and-global-dna-methylation-index-levels-are-associated-with-weight-loss-in-a-personalized-weight-reduction-program
#10
Francesca Pirini, Sebastian Rodriguez-Torres, Bola Grace Ayandibu, María Orera-Clemente, Alberto Gonzalez-de la Vega, Fahcina Lawson, Roland J Thorpe, David Sidransky, Rafael Guerrero-Preston
Single nucleotide polymorphisms associated with lipid metabolism and energy balance are implicated in the weight loss response caused by nutritional interventions. Diet‑induced weight loss is also associated with differential global DNA methylation. DNA methylation has been proposed as a predictive biomarker for weight loss response. Personalized biomarkers for successful weight loss may inform clinical decisions when deciding between behavioral and surgical weight loss interventions. The aim of the present study was to investigate the association between global DNA methylation, genetic variants associated with energy balance and lipid metabolism, and weight loss following a non‑surgical weight loss regimen...
November 14, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29138111/recent-advances-in-melanoma-research-via-omics-platforms
#11
REVIEW
Carmen Rodríguez-Cerdeira, Alberto Molares-Vila, Miguel Carnero-Gregorio, Alberte Corbalán-Rivas
Melanoma has a high mortality rate and metastatic melanoma is highly resistant to conventional therapies. "Omics" fields such as proteomics and microRNA and exosome studies have provided new knowledge to complement the information generated by genomic studies. This work aimed to review the current status of biomarker discovery for melanoma through multi-"omics" platforms. A few sets of novel microRNAs and proteins are described, some of them with important implications in suppressing melanoma at different stages...
November 11, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/29134551/the-dangers-of-direct-to-consumer-genetic%C3%A2-testing%C3%A2-for-alzheimer-s-disease-comment-on-personal-genomic-testing-genetic-inheritance-and-uncertainty
#12
Paul Lacaze, Jane Tiller, Joanne Ryan
The overarching issue with this case study is poor regulation and quality control over direct-to-consumer genetic testing, delivered in the absence of any medical oversight.
November 13, 2017: Journal of Bioethical Inquiry
https://www.readbyqxmd.com/read/29133939/precision-medicine-for-urothelial-bladder-cancer-update-on-tumour-genomics-and-immunotherapy
#13
REVIEW
Kenneth M Felsenstein, Dan Theodorescu
Effective management of advanced urothelial bladder cancer is challenging. New discoveries that improve our understanding of molecular bladder cancer subtypes have revealed numerous potentially targetable genomic alterations and demonstrated the efficacy of treatments that harness the immune system. These findings have begun to change paradigms of bladder cancer therapy. For example, DNA repair pathway mutations in genes such as ERCC2, FANCC, ATM, RB1, and others can predict responses to neoadjuvant platinum-based chemotherapies and to targeted therapies on the basis of mutation status...
November 14, 2017: Nature Reviews. Urology
https://www.readbyqxmd.com/read/29132919/clonal-replacement-and-expansion-among-invasive-meningococcal-isolates-of-serogroup-w-in-france
#14
Eva Hong, Anne-Sophie Barret, Aude Terrade, Mélanie Denizon, Denise Antona, Myriam Aouiti-Trabelsi, Ala-Eddine Deghmane, Isabelle Parent du Châtelet, Daniel Levy-Bruhl, Muhamed-Kheir Taha
Background Neisseria meningitidis group W (NmW) belonging to the clonal complex ST-11 (NmW/cc11) spread in Europe and in France in 2000 and declined thereafter. In France, invasive meningococcal disease (IMD) due to NmW increased again in 2012 and thereafter since 2015. Several sub-lineages of NmW/cc11 are circulating worldwide with successive epidemic waves. We aimed to describe recent epidemiological trends of NmW in France and to explore the microbiological and epidemiological characteristics associated with different NmW/cc11 sub-lineages...
November 10, 2017: Journal of Infection
https://www.readbyqxmd.com/read/29131160/human-primary-liver-cancer-derived-organoid-cultures-for-disease-modeling-and-drug-screening
#15
Laura Broutier, Gianmarco Mastrogiovanni, Monique Ma Verstegen, Hayley E Francies, Lena Morrill Gavarró, Charles R Bradshaw, George E Allen, Robert Arnes-Benito, Olga Sidorova, Marcia P Gaspersz, Nikitas Georgakopoulos, Bon-Kyoung Koo, Sabine Dietmann, Susan E Davies, Raaj K Praseedom, Ruby Lieshout, Jan N M IJzermans, Stephen J Wigmore, Kourosh Saeb-Parsy, Mathew J Garnett, Luc Jw van der Laan, Meritxell Huch
Human liver cancer research currently lacks in vitro models that can faithfully recapitulate the pathophysiology of the original tumor. We recently described a novel, near-physiological organoid culture system, wherein primary human healthy liver cells form long-term expanding organoids that retain liver tissue function and genetic stability. Here we extend this culture system to the propagation of primary liver cancer (PLC) organoids from three of the most common PLC subtypes: hepatocellular carcinoma (HCC), cholangiocarcinoma (CC) and combined HCC/CC (CHC) tumors...
November 13, 2017: Nature Medicine
https://www.readbyqxmd.com/read/29130150/predictors-of-adverse-psychological-experiences-surrounding-genome-wide-profiling-for-disease-risk
#16
K M Broady, K E Ormond, E J Topol, N J Schork, Cinnamon S Bloss
This study aimed to identify predictors of adverse psychological experiences among direct-to-consumer (DTC) genomic test consumers. We performed a secondary analysis on data from the Scripps Genomic Health Initiative (SGHI), which studied 2037 individuals tested with commercially available tests yielding personalized risk estimates for 23 common, genetically complex diseases. As part of the original study, the participants completed baseline and follow-up survey measures assessing demographics, personal and family health history, attitudes toward genetic testing, anxiety (State-Trait Anxiety Inventory (STAI)), test-related distress (Impact of Event Scale-Revised (IES-R)), and reactions to receipt of results...
November 13, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/29129848/significance-of-functional-disease-causal-susceptible-variants-identified-by-whole-genome-analyses-for-the-understanding-of-human-diseases
#17
Yuki Hitomi, Katsushi Tokunaga
Human genome variation may cause differences in traits and disease risks. Disease-causal/susceptible genes and variants for both common and rare diseases can be detected by comprehensive whole-genome analyses, such as whole-genome sequencing (WGS), using next-generation sequencing (NGS) technology and genome-wide association studies (GWAS). Here, in addition to the application of an NGS as a whole-genome analysis method, we summarize approaches for the identification of functional disease-causal/susceptible variants from abundant genetic variants in the human genome and methods for evaluating their functional effects in human diseases, using an NGS and in silico and in vitro functional analyses...
2017: Proceedings of the Japan Academy. Series B, Physical and Biological Sciences
https://www.readbyqxmd.com/read/29129398/genomic-markers-in-prostate-cancer-decision-making
#18
REVIEW
Vito Cucchiara, Matthew R Cooperberg, Marc Dall'Era, Daniel W Lin, Francesco Montorsi, Jack A Schalken, Christopher P Evans
CONTEXT: Although the widespread use of prostate-specific antigen (PSA) has led to an early detection of prostate cancer (PCa) and a reduction of metastatic disease at diagnosis, PSA remains one of the most controversial biomarkers due to its limited specificity. As part of emerging efforts to improve both detection and management decision making, a number of new genomic tools have recently been developed. OBJECTIVE: This review summarizes the ability of genomic biomarkers to recognize men at high risk of developing PCa, discriminate clinically insignificant and aggressive tumors, and facilitate the selection of therapies in patients with advanced disease...
November 9, 2017: European Urology
https://www.readbyqxmd.com/read/29128545/massive-parallel-sequencing-of-mitochondrial-dna-genomes-from-mother-child-pairs-using-the-ion-torrent-personal-genome-machine-pgm
#19
Ke Ma, Xueying Zhao, Hui Li, Yu Cao, Wei Li, Jian Ouyang, Lu Xie, Wenbin Liu
Mitochondrial genome analysis is a potent tool in forensic practice and in the understanding of human phylogeny in the maternal lineage. With the development of molecular biology and bioinformatics techniques, high-throughput sequencing has enabled mtDNA analysis during whole genome sequencing, which provides more comprehensive information and raises the power of discrimination. In this study, peripheral blood samples were taken from 194 mother-offspring pairs and sequenced by Ion Torrent Personal Genome Machine and obtained high-coverage mitochondrial sequencing data, demonstrating the mutation levels at each position in the mitochondrial DNA (mtDNA) between maternally related pairs...
November 6, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29126384/population-differentiation-in-allele-frequencies-of-obesity-associated-snps
#20
Linyong Mao, Yayin Fang, Michael Campbell, William M Southerland
BACKGROUND: Obesity is emerging as a global health problem, with more than one-third of the world's adult population being overweight or obese. In this study, we investigated worldwide population differentiation in allele frequencies of obesity-associated SNPs (single nucleotide polymorphisms). RESULTS: We collected a total of 225 obesity-associated SNPs from a public database. Their population-level allele frequencies were derived based on the genotype data from 1000 Genomes Project (phase 3)...
November 10, 2017: BMC Genomics
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