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https://www.readbyqxmd.com/read/29781548/multi-omics-in-high-grade-serous-ovarian-cancer-biomarkers-from-genome-to-the-immunome
#1
Cole Clifford, Natasha Vitkin, Sarah Nersesian, Gillian Reid-Schachter, Julie-Ann Francis, Madhuri Koti
Epithelial ovarian cancer (EOC) is a lethal gynaecological disease that imposes significant burden on health care and patient quality of life. High-grade serous carcinoma of the ovary (HGSC) is the most prevalent histological type of EOC. A vast majority of HGSC cases are diagnosed at late stages of the disease, limiting the opportunity for clinical intervention and resulting in a 10-year survival rate of <20%. Recent innovations in high-throughput molecular analysis of patient-derived specimens may address these clinical challenges by providing an enhanced understanding of the molecular aetiology of ovarian cancer, in addition to offering several opportunities for rational biomarker and targeted therapy discovery...
May 21, 2018: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/29780850/canada-wide-epidemic-of-emm74-group-a-streptococcus-invasive-disease
#2
Sarah Teatero, Allison McGeer, Gregory J Tyrrell, Linda Hoang, Hanan Smadi, Marc-Christian Domingo, Paul N Levett, Michael Finkelstein, Ken Dewar, Agron Plevneshi, Taryn B T Athey, Jonathan B Gubbay, Michael R Mulvey, Irene Martin, Walter Demczuk, Nahuel Fittipaldi
Background: The number of invasive group A Streptococcus (iGAS) infections due to hitherto extremely rare type emm74 strains has increased in several Canadian provinces since late 2015. We hypothesized that the cases recorded in the different provinces are linked and caused by strains of an emm74 clone that recently emerged and expanded explosively. Methods: We analyzed both active and passive surveillance data for iGAS infections and used whole-genome sequencing to investigate the phylogenetic relationships of the emm74 strains responsible for these invasive infections country-wide...
May 2018: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/29780361/challenges-and-promises-for-planning-future-clinical-research-into-bacteriophage-therapy-against-pseudomonas-aeruginosa-in-cystic-fibrosis-an-argumentative-review
#3
REVIEW
Martina Rossitto, Ersilia V Fiscarelli, Paola Rosati
Although early aggressive and prolonged treatment with specific antibiotics can extend survival in patients with cystic fibrosis (CF) colonized by opportunistic Pseudomonas aeruginosa (PA), antibiotics fail to eradicate the infecting multidrug-resistant (MDR) PA strains in CF. Century-long research has suggested treating patients with bacteriophages (phages, prokaryotic viruses) naturally hosted by bacteria. Although the only phage types used in therapy, lytic phages, lyse PA aggregated in biofilm matrix by depolymerase degrading enzymes, how they can effectively, safely, and persistently do so in patients with CF is unclear...
2018: Frontiers in Microbiology
https://www.readbyqxmd.com/read/29779033/genome-wide-association-study-of-renal-function-traits-results-from-the-japan-multi-institutional-collaborative-cohort-study
#4
Asahi Hishida, Masahiro Nakatochi, Masato Akiyama, Yoichiro Kamatani, Takeshi Nishiyama, Hidemi Ito, Isao Oze, Yuichiro Nishida, Megumi Hara, Naoyuki Takashima, Tanvir Chowdhury Turin, Miki Watanabe, Sadao Suzuki, Rie Ibusuki, Ippei Shimoshikiryo, Yohko Nakamura, Haruo Mikami, Hiroaki Ikezaki, Norihiro Furusyo, Kiyonori Kuriki, Kaori Endoh, Teruhide Koyama, Daisuke Matsui, Hirokazu Uemura, Kokichi Arisawa, Tae Sasakabe, Rieko Okada, Sayo Kawai, Mariko Naito, Yukihide Momozawa, Michiaki Kubo, Kenji Wakai
BACKGROUND: Chronic kidney disease (CKD) is a rapidly growing, worldwide public health problem. Recent advances in genome-wide-association studies (GWAS) revealed several genetic loci associated with renal function traits worldwide. METHODS: We investigated the association of genetic factors with the levels of serum creatinine (SCr) and the estimated glomerular filtration rate (eGFR) in Japanese population-based cohorts analyzing the GWAS imputed data with 11,221 subjects and 12,617,569 variants, and replicated the findings with the 148,829 hospital-based Japanese subjects...
May 18, 2018: American Journal of Nephrology
https://www.readbyqxmd.com/read/29776953/the-landscape-of-actionable-genomic-alterations-in-cell-free-circulating-tumor-dna-from-21-807-advanced-cancer-patients
#5
Oliver A Zill, Kimberly C Banks, Stephen R Fairclough, Stefanie Mortimer, James V Vowles, Reza Mokhtari, David R Gandara, Philip C Mack, Justin I Odegaard, Rebecca J Nagy, Arthur M Baca, Helmy Eltoukhy, Darya I Chudova, Richard B Lanman, AmirAli Talasaz
PURPOSE: Cell-free DNA (cfDNA) sequencing provides a non-invasive method for obtaining actionable genomic information to guide personalized cancer treatment, but the presence of multiple alterations in circulation related to treatment and tumor heterogeneity complicate the interpretation of the observed variants. Experimental Design: We describe the somatic mutation landscape of 70 cancer genes from cfDNA deep-sequencing analysis of 21,807 patients with treated, late-stage cancers across &gt;50 cancer types...
May 18, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29776637/an-update-regarding-the-molecular-genetics-of-melanocytic-neoplasms-and-the-current-applications-of-molecular-genetic-technologies-in-their-diagnosis-and-treatment
#6
REVIEW
Katrin Kiavash, Martin H Bluth, Andrew David Thompson
Molecular genetic technologies are used to aid in diagnosis and treatment of borderline melanocytic tumors as an adjuvant to the gold standard histopathologic evaluation. A specific set of fluorescence in situ hybridization probes is widely used to aid in diagnosing challenging melanocytic lesions. New melanoma probe cocktails have revealed increased sensitivity and specificity in ambiguous melanocytic cases. Array comparative genomic hybridization is a more complex technology used for the work-up of diagnostically problematic Spitzoid melanocytic proliferations...
June 2018: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29776392/molecular-identification-of-tick-borne-pathogens-in-asymptomatic-individuals-with-human-immunodeficiency-virus-type-1-hiv-1-infection-a-retrospective-study
#7
Renata Welc-Falęciak, Justyna D Kowalska, Małgorzata Bednarska, Magdalena Szatan, Agnieszka Pawełczyk
BACKGROUND: The studies on the occurrence and diversity of tick-borne infections in HIV-infected individuals have been few, and the subject has been relatively neglected when compared with other common infections associated with HIV. In HIV-positive patients in whom a serological diagnostics is complicated due to reduced positive predictive value, a method where the microorganism is detected directly is of great value. Therefore, we performed a molecular study to ascertain the prevalence and incidence of tick-borne infections in HIV-infected persons in Poland, an endemic area for Ixodes ricinus ticks...
May 18, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29775752/the-genetics-and-molecular-pathogenesis-of-systemic-lupus-erythematosus-sle-in-populations-of-different-ancestry
#8
REVIEW
George N Goulielmos, Maria I Zervou, Vassilis M Vazgiourakis, Yogita Ghodke-Puranik, Alexandros Garyfallos, Timothy B Niewold
Systemic lupus erythematosus (SLE; OMIM 152700) is a highly heterogeneous disorder, characterized by differences in autoantibody profile, serum cytokines, and a multi-system involvement commonly affecting the skin, renal, musculoskeletal, and hematopoetic systems clinical manifestations involving. Disease features range from mild manifestations, such as rash or arthritis, to life-threatening end-organ manifestations, such as glomerulonephritis or thrombosis, and it is difficult to predict which manifestations will affect a given patient...
May 15, 2018: Gene
https://www.readbyqxmd.com/read/29773584/mechanisms-in-endocrinology-cell-cycle-regulation-in-adrenocortical-carcinoma
#9
Sofia Pereira, Mariana P Monteiro, Isabelle Bourdeau, Andre Lacroix, Duarte Pignatelli
Adrenocortical carcinomas are rather rare endocrine tumors that often have a poor prognosis. The reduced survival rate associated with these tumors is due to their aggressive biological behavior, combined with the scarcity of effective treatment options that are currently available. The recent identification of the genomic alterations present in ACC have provided further molecular mechanisms to develop consistent strategies for the diagnosis, prevention of progression and treatment of advanced ACCs. Taken together, molecular and genomic advances could be leading the way to develop personalized medicine in ACCs similarly to similar developments in lung or breast cancers...
May 17, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29762641/functional-genomics-paving-the-way-for-more-successful-cancer-immunotherapy
#10
Reham Ajina, Danielle Zamalin, Louis M Weiner
Immunotherapies have revolutionized cancer treatment. Immunotherapy is effective for the treatment of a wide range of cancer types and can mediate complete and durable tumor regression. Nonetheless, the field still faces many significant challenges, such as the need for personalized therapeutic strategies and better biomarkers, the difficulty of selecting the right combination therapy, and resistance to currently available immunotherapies. Both cancer and host immunity comprise significantly diverse and complex ecosystems, making immunogenomics an ideal field for functional genomics analysis...
May 11, 2018: Briefings in Functional Genomics
https://www.readbyqxmd.com/read/29760539/new-therapeutic-options-opened-by-the-molecular-classification-of-gastric-cancer
#11
REVIEW
Mihaela Chivu-Economescu, Lilia Matei, Laura G Necula, Denisa L Dragu, Coralia Bleotu, Carmen C Diaconu
Gastric cancer (GC) is one of the most lethal and aggressive cancers, being the third cause of cancer related death worldwide. Even with radical gastrectomy and the latest generation of molecular chemotherapeutics, the numbers of recurrence and mortality remains high. This is due to its biological heterogeneity based on the interaction between multiple factors, from genomic to environmental factors, diet or infections with various pathogens. Therefore, understanding the molecular characteristics at a genomic level is critical to develop new treatment strategies...
May 14, 2018: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/29754704/genetic-advances-in-post-traumatic-stress-disorder
#12
Hernan Felipe Guillén-Burgos, Karol Gutiérrez-Ruiz
Post-traumatic stress disorder, or PTSD, is a condition that affects a subgroup of individuals that have suffered a previous traumatic event capable of generating changes at a psychological and behavioural level. These changes affect the personal, family, and social environment of those who suffer from this condition. Different genes have been identified as risk markers for development of this disorder. The population heterogeneity and individual differences (genetic and environmental) of each subject have made it difficult to identify valid markers in previous studies...
April 2018: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/29754564/from-genomes-to-genomic-medicine-enabling-personalized-and-precision-medicine-in-the-middle-east
#13
Puthen Veettil Jithesh, Vinod Scaria
No abstract text is available yet for this article.
September 2017: Personalized Medicine
https://www.readbyqxmd.com/read/29752830/associations-between-loneliness-and-personality-are-mostly-driven-by-a-genetic-association-with-neuroticism
#14
Abdel Abdellaoui, Hsi-Yuan Chen, Gonneke Willemsen, Erik A Ehli, Gareth E Davies, Karin J H Verweij, Michel G Nivard, Eco J C de Geus, Dorret I Boomsma, John T Cacioppo
OBJECTIVE: Loneliness is an aversive response to a discrepancy between desired and actual social relationships and correlates with personality. We investigate the relationship of loneliness and personality in twin-family and molecular genetic data. METHOD: Phenotypic correlations between loneliness and the Big Five personality traits were estimated in 29,625 adults, and in a group with genome-wide genotype data (N=4,222), genetic correlations were obtained. We explored whether genetic correlations may reflect causal relationships by investigating within monozygotic twin-pair differences (Npairs =2,662), by longitudinal within-subject changes in personality and loneliness (N=4,260-9,238 longitudinal comparisons), and by longitudinal cross-lagged panel analyses (N=15,628)...
May 12, 2018: Journal of Personality
https://www.readbyqxmd.com/read/29751732/population-screening-for-hemoglobinopathies
#15
H W Goonasekera, C S Paththinige, V H W Dissanayake
Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases...
May 11, 2018: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/29749858/tbc-update-personalized-epigenetic-management-of-diabetes
#16
Adriana Fodor, Angela Cozma, Eddy Karnieli
The novel genome-wide assays of epigenetic marks have resulted in a greater understanding of how genetics and the environment interact in the development and inheritance of diabetes. Chronic hyperglycemia induces epigenetic changes in multiple organs, contributing to diabetic complications. Specific epigenetic-modifying compounds have been developed to erase these modifications, possibly slowing down the onset of diabetes-related complications. The current review is an update of the previously published paper, describing the most recent advances in the epigenetics of diabetes...
November 2017: Personalized Medicine
https://www.readbyqxmd.com/read/29748622/genomic-features-of-renal-cell-carcinoma-with-venous-tumor-thrombus
#17
Gregor Warsow, Daniel Hübschmann, Kortine Kleinheinz, Cathleen Nientiedt, Martina Heller, Laura Van Coile, Yanis Tolstov, Lukas Trennheuser, Kathrin Wieczorek, Carine Pecqueux, Claudia Gasch, Timur Kuru, Joanne Nyarangi-Dix, Gencay Hatiboglu, Dogu Teber, Sven Perner, Albrecht Stenzinger, Wilfried Roth, Boris Hadaschik, Sascha Pahernik, Dirk Jäger, Carsten Grüllich, Anette Duensing, Roland Eils, Matthias Schlesner, Holger Sültmann, Markus Hohenfellner, Stefan Duensing
A venous tumor thrombus (VTT) is a potentially lethal complication of renal cell carcinoma (RCC) but virtually nothing is known about the underlying natural history. Based on our observation that venous thrombi contain significant numbers of viable tumor cells, we applied multiregion whole exome sequencing to a total of 37 primary tumor and VTT samples including normal tissue specimens from five consecutive patients. Our findings demonstrate mutational heterogeneity between primary tumor and VTT with 106 of 483 genes (22%) harboring functional SNVs and/or indels altered in either primary tumor or thrombus...
May 10, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29746212/harnessing-omics-big-data-in-nine-vertebrate-species-by-genome-wide-prioritization-of-sequence-variants-with-the-highest-predicted-deleterious-effect-on-protein-function
#18
Vita Rozman, Tanja Kunej
Harnessing the genomics big data requires innovation in how we extract and interpret biologically relevant variants. Currently, there is no established catalog of prioritized missense variants associated with deleterious protein function phenotypes. We report in this study, to the best of our knowledge, the first genome-wide prioritization of sequence variants with the most deleterious effect on protein function (potentially deleterious variants [pDelVars]) in nine vertebrate species: human, cattle, horse, sheep, pig, dog, rat, mouse, and zebrafish...
May 10, 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29744615/systems-biology-systems-medicine-systems-pharmacology-the-what-and-the-why
#19
Angélique Stéphanou, Eric Fanchon, Pasquale F Innominato, Annabelle Ballesta
Systems biology is today such a widespread discipline that it becomes difficult to propose a clear definition of what it really is. For some, it remains restricted to the genomic field. For many, it designates the integrated approach or the corpus of computational methods employed to handle the vast amount of biological or medical data and investigate the complexity of the living. Although defining systems biology might be difficult, on the other hand its purpose is clear: systems biology, with its emerging subfields systems medicine and systems pharmacology, clearly aims at making sense of complex observations/experimental and clinical datasets to improve our understanding of diseases and their treatments without putting aside the context in which they appear and develop...
May 9, 2018: Acta Biotheoretica
https://www.readbyqxmd.com/read/29741616/a-systematic-review-of-genome-wide-research-on-psychotic-experiences-and-negative-symptom-traits-new-revelations-and-implications-for-psychiatry
#20
Angelica Ronald, Oliver Pain
We present a systematic review of genome-wide research on psychotic experience and negative symptom traits (PENS) in the community. We integrate these new findings, most of which have emerged over the last four years, with more established behaviour genetic and epidemiological research. The review includes the first genome-wide association studies of PENS, including a recent meta-analysis, and the first SNP heritability estimates. Sample sizes of < 10,000 participants mean that no genome-wide significant variants have yet been replicated...
May 8, 2018: Human Molecular Genetics
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