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Genomics Medicine

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https://www.readbyqxmd.com/read/28749478/molecular-autopsy-in-maternal-fetal-medicine
#1
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan, Bahauddin Sallout, Elham Al Mardawi, Mohamed Zain Seidahmed, Niema Meriki, Yasser Alsaber, Alya Qari, Ola Khalifa, Wafaa Eyaid, Zuhair Rahbeeni, Ahmed Kurdi, Mais Hashem, Tarfa Alshidi, Eman Al-Obeid, Firdous Abdulwahab, Niema Ibrahim, Nour Ewida, Karen El-Akouri, Mariam Al Mulla, Tawfeg Ben-Omran, Matthias Pergande, Sebahattin Cirak, Saeed Al Tala, Ranad Shaheen, Eissa Faqeih, Fowzan S Alkuraya
PurposeThe application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe Mendelian disorders, has been limited.MethodsIn this study, we employed exome sequencing as a molecular autopsy tool in a cohort of 44 families with at least one death or lethal fetal malformation at any stage of in utero development. Where no DNA was available from the fetus, we performed molecular autopsy by proxy, i.e., through parental testing.ResultsPathogenic or likely pathogenic variants were identified in 22 families (50%), and variants of unknown significance were identified in further 15 families (34%)...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749477/mapping-the-genomic-landscape-of-inherited-retinal-disease-genes-prioritizes-genes-prone-to-coding-and-noncoding-copy-number-variations
#2
Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja Kathrin Mayer, Mattias Van Heetvelde, Miriam Bauwens, Hannah Verdin, Frauke Coppieters, Michael E Greenberg, Marty G Yang, Marcus Karlstetter, Thomas Langmann, Katleen De Preter, Susanne Kohl, Timothy J Cherry, Bart P Leroy, Elfride De Baere
PurposePart of the hidden genetic variation in heterogeneous genetic conditions such as inherited retinal diseases (IRDs) can be explained by copy-number variations (CNVs). Here, we explored the genomic landscape of IRD genes listed in RetNet to identify and prioritize those genes susceptible to CNV formation.MethodsRetNet genes underwent an assessment of genomic features and of CNV occurrence in the Database of Genomic Variants and literature. CNVs identified in an IRD cohort were characterized using targeted locus amplification (TLA) on extracted genomic DNA...
July 27, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28749054/the-precision-medicine-nation
#3
Maya Sabatello, Paul S Appelbaum
The United States' ambitious Precision Medicine Initiative proposes to accelerate exponentially the adoption of precision medicine, an approach to health care that tailors disease diagnosis, treatment, and prevention to individual variability in genes, environment, and lifestyle. It aims to achieve this by creating a cohort of volunteers for precision medicine research, accelerating biomedical research innovation, and adopting policies geared toward patients' empowerment. As strategies to implement the PMI are formulated, critical consideration of the initiative's ethical and sociopolitical dimensions is needed...
July 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28749051/genomic-justice-and-imagined-communities
#4
Ernesto Schwartz-Marin
In this issue of the Hastings Center Report, Maya Sabatello and Paul Appelbaum explore the assumptions about community embedded in the U.S. Precision Medicine Initiative, which aims to recruit donor-partners who reflect the United States' racial and ethnic diversity. As Sabatello and Appelbaum discuss, the initiative is like other national biobanking efforts in bringing to life an imagined genetic community in need of critical attention, and given the public-private forms of partnership at the heart of the PMI, such efforts could become avenues to deepen existing inequalities rather than to alleviate them...
July 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28746312/sequencing-and-de-novo-assembly-of-150-genomes-from-denmark-as-a-population-reference
#5
Lasse Maretty, Jacob Malte Jensen, Bent Petersen, Jonas Andreas Sibbesen, Siyang Liu, Palle Villesen, Laurits Skov, Kirstine Belling, Christian Theil Have, Jose M G Izarzugaza, Marie Grosjean, Jette Bork-Jensen, Jakob Grove, Thomas D Als, Shujia Huang, Yuqi Chang, Ruiqi Xu, Weijian Ye, Junhua Rao, Xiaosen Guo, Jihua Sun, Hongzhi Cao, Chen Ye, Johan van Beusekom, Thomas Espeseth, Esben Flindt, Rune M Friborg, Anders E Halager, Stephanie Le Hellard, Christina M Hultman, Francesco Lescai, Shengting Li, Ole Lund, Peter Løngren, Thomas Mailund, Maria Luisa Matey-Hernandez, Ole Mors, Christian N S Pedersen, Thomas Sicheritz-Pontén, Patrick Sullivan, Ali Syed, David Westergaard, Rachita Yadav, Ning Li, Xun Xu, Torben Hansen, Anders Krogh, Lars Bolund, Thorkild I A Sørensen, Oluf Pedersen, Ramneek Gupta, Simon Rasmussen, Søren Besenbacher, Anders D Børglum, Jun Wang, Hans Eiberg, Karsten Kristiansen, Søren Brunak, Mikkel Heide Schierup
Hundreds of thousands of human genomes are now being sequenced to characterize genetic variation and use this information to augment association mapping studies of complex disorders and other phenotypic traits. Genetic variation is identified mainly by mapping short reads to the reference genome or by performing local assembly. However, these approaches are biased against discovery of structural variants and variation in the more complex parts of the genome. Hence, large-scale de novo assembly is needed. Here we show that it is possible to construct excellent de novo assemblies from high-coverage sequencing with mate-pair libraries extending up to 20 kilobases...
July 26, 2017: Nature
https://www.readbyqxmd.com/read/28745447/commentary-perspectives-on-alcohol-related-gene-and-environment-interplay-in-diverse-populations
#6
Marcia S Scott
BACKGROUND AND OBJECTIVES: Racial/ethnic groups comprise more than 20% of the U.S. population, but many experience disproportionately high risk for alcohol misuse, often resulting in higher rates of alcohol-associated consequences. Completion of mapping the human genome has launched rapidly evolving research methods aimed at improved understanding of genetic contribution to disease. Despite decades of research on the influence of genetic and environmental risks on alcohol use disorders and outcomes, few studies have included racial/ethnic subpopulations in sufficient numbers to allow for proper statistical analysis...
August 2017: American Journal on Addictions
https://www.readbyqxmd.com/read/28743680/internet-based-assessment-of-oncology-health-care-professional-learning-style-and-optimization-of-materials-for-web-based-learning-controlled-trial-with-concealed-allocation
#7
Christine M Micheel, Ingrid A Anderson, Patricia Lee, Sheau-Chiann Chen, Katy Justiss, Nunzia B Giuse, Fei Ye, Sheila V Kusnoor, Mia A Levy
BACKGROUND: Precision medicine has resulted in increasing complexity in the treatment of cancer. Web-based educational materials can help address the needs of oncology health care professionals seeking to understand up-to-date treatment strategies. OBJECTIVE: This study aimed to assess learning styles of oncology health care professionals and to determine whether learning style-tailored educational materials lead to enhanced learning. METHODS: In all, 21,465 oncology health care professionals were invited by email to participate in the fully automated, parallel group study...
July 25, 2017: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/28742937/models-for-discovery-of-targeted-therapy-in-genetic-epileptic-encephalopathies
#8
REVIEW
Snezana Maljevic, Christopher A Reid, Steven Petrou
Epileptic encephalopathies are severe disorders emerging in the first days to years of life that commonly include refractory seizures, various types of movement disorders, and different levels of developmental delay. In recent years, many de novo occurring variants have been identified in individuals with these devastating disorders. To unravel disease mechanisms the functional impact of detected variants associated with epileptic encephalopathies is investigated in a range of cellular and animal models. This review addresses efforts to advance and use such models to identify specific molecular and cellular targets for the development of novel therapies...
July 25, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28741491/watson-for-genomics-moving-personalized-medicine-forward
#9
Kahn Rhrissorrakrai, Takahiko Koyama, Laxmi Parida
The confluence of genomic technologies and cognitive computing has brought us to the doorstep of widespread usage of personalized medicine. Cognitive systems, such as Watson for Genomics (WG), integrate massive amounts of new omic data with the current body of knowledge to assist physicians in analyzing and acting on patient's genomic profiles.
August 2016: Trends in Cancer
https://www.readbyqxmd.com/read/28741255/genetics-of-schizophrenia-ready-to-translate
#10
REVIEW
Claire Foley, Aiden Corvin, Shigeki Nakagome
PURPOSE OF REVIEW: This is an era where we have significantly advanced the understanding of the genetic architecture of schizophrenia. In this review, we consider how this knowledge may translate into advances that will improve patient care. RECENT FINDINGS: Large-scale genome-wide association studies (GWAS) have identified more than a hundred loci each making a small contribution to illness risk. Meta-analysis of copy number variants (CNVs) in the Psychiatric Genomics Consortium (PGC) dataset has confirmed that some variants have a moderate or large impact on risk, although these are rare in the population...
September 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28739809/genomic-medicine-in-cardiovascular-fellowship-training
#11
Aaron W Aday, Calum A MacRae
No abstract text is available yet for this article.
July 25, 2017: Circulation
https://www.readbyqxmd.com/read/28738906/next-generation-sequencing-to-monitor-the-spread-of-antimicrobial-resistance
#12
Michael Otto
Next-generation sequencing is increasingly being used to monitor current and historic events related to the emergence and spread of antimicrobial resistance. In a recent publication, researchers analyzed the rise of methicillin-resistant Staphylococcus aureus in the 1960s, emphasizing that adaptations conferring antibiotic resistance might pre-date the introduction of novel antibiotic derivatives. Other researchers have evaluated the role of transmission within a healthcare network, using the example of extended-spectrum beta-lactamase-resistant Escherichia coli...
July 25, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28737972/identifying-health-information-technology-needs-of-oncologists-to-facilitate-the-adoption-of-genomic-medicine-recommendations-from-the-2016-american-society-of-clinical-oncology-omics-and-precision-oncology-workshop
#13
Kevin S Hughes, Edward P Ambinder, Gregory P Hess, Peter Paul Yu, Elmer V Bernstam, Mark J Routbort, Jean Rene Clemenceau, John T Hamm, Phillip G Febbo, Susan M Domchek, James L Chen, Jeremy L Warner
At the ASCO Data Standards and Interoperability Summit held in May 2016, it was unanimously decided that four areas of current oncology clinical practice have serious, unmet health information technology needs. The following areas of need were identified: 1) omics and precision oncology, 2) advancing interoperability, 3) patient engagement, and 4) value-based oncology. To begin to address these issues, ASCO convened two complementary workshops: the Omics and Precision Oncology Workshop in October 2016 and the Advancing Interoperability Workshop in December 2016...
July 24, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28736756/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#14
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, J Timothy Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart Lung Blood Institute (NHLBI) convened a Working Group of experts on June 2-3, 2016 in Bethesda Maryland to develop recommendations for the NHLBI aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MSC devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
June 2017: JACC. Basic to Translational Science
https://www.readbyqxmd.com/read/28736679/chloroplast-genome-sequence-annotation-of-i-dendrobium-nobile-i-asparagales-orchidaceae-an-endangered-medicinal-orchid-from-northeast-india
#15
Devendra Biswal, Ruchishree Konhar, Manish Debnath, Sriram Parameswaran, Durai Sundar, Pramod Tandon
Orchidaceae constitutes one of the largest families of angiosperms. Owing to the significance of orchids in plant biology, market needs and current sustainable technology levels, basic research on the biology of orchids and their applications in the orchid industry is increasing. Although chloroplast (cp) genomes continue to be evolutionarily informative, there is very limited information available on orchid chloroplast genomes in public repositories. Here, we report the complete cp genome sequence of Dendrobium nobile from Northeast India (Orchidaceae, Asparagales), bearing the GenBank accession number KX377961, which will provide valuable information for future research on orchid genomics and evolution, as well as the medicinal value of orchids...
May 19, 2017: PLoS Currents
https://www.readbyqxmd.com/read/28736627/personalized-and-precision-medicine-integrating-genomics-into-treatment-decisions-in-gastrointestinal-malignancies
#16
REVIEW
Trang H Au, Kai Wang, David Stenehjem, Ignacio Garrido-Laguna
The advent of next generation sequencing (NGS) technologies has advanced our understanding of the intrinsic biology of different gastrointestinal (GI) tumor types. The use of novel, more efficient sequencing platforms has improved turnaround times of sequencing results. This is providing real time opportunities to put precision medicine to the test. A number of early phase clinical trials are testing targeted therapies in unique molecularly characterized subsets of patients (baskets). While basket studies are gaining momentum, treatment failures serve to remind us that shifting from a histology-driven to a histology-agnostic approach is unlikely to be a failure-free strategy for a number of tumor types as recently learnt from vemurafenib failure in BRAF mutated metastatic colorectal cancer (mCRC)...
June 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28736315/the-spectrum-of-triple-negative-breast-disease-high-and-low-grade-lesions
#17
REVIEW
Felipe C Geyer, Fresia Pareja, Britta Weigelt, Emad Rakha, Ian O Ellis, Stuart J Schnitt, Jorge S Reis-Filho
Triple-negative breast cancer is viewed clinically as an aggressive subgroup of breast cancer. In fact, the majority of triple-negative breast cancers are poor-prognosis tumors with a complex genomic landscape. However, triple-negative disease is vastly heterogeneous, encompassing multiple entities with marked genetic, transcriptional, histological, and clinical differences, with neoplasms in this group ranging from low- to high-grade. Among the less common low-grade triple-negative lesions, two large subgroups, both with a rather indolent behavior, can be distinguished: a low-grade triple-negative breast neoplasia family, which includes nonobligate precursors of triple-negative breast cancer, and, despite being low-grade, harbor the complex genomic landscape of usual triple-negative breast cancer, and the salivary gland-like tumors of the breast, lacking all of the cardinal molecular features of conventional triple-negative breast cancer and underpinned by specific fusion-genes or hotspot mutations, which may be of diagnostic and possibly therapeutic utility...
July 20, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28735000/application-of-pharmacometrics-and-quantitative-systems-pharmacology-to-cancer-therapy-the-example-of-luminal-a-breast-cancer
#18
REVIEW
Brett Fleisher, Kayla Andrews, Ashley A Brown, Sihem Ait-Oudhia
Breast cancer (BC) is the most common cancer in women, and the second most frequent cause of cancer-related deaths in women worldwide. It is a heterogeneous disease composed of multiple subtypes with distinct morphologies and clinical implications. Quantitative systems pharmacology (QSP) is an emerging discipline bridging systems biology with pharmacokinetics (PK) and pharmacodynamics (PD) leveraging the systematic understanding of drugs' efficacy and toxicity. Despite numerous challenges in applying computational methodologies for QSP and mechanism-based PK/PD models to biological, physiological, and pharmacological data, bridging these disciplines has the potential to enhance our understanding of complex disease systems such as BC...
July 19, 2017: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28734944/triple-negative-breast-cancer-next-generation-sequencing-for-target-identification
#19
REVIEW
Jonathan D Marotti, Francine B de Abreu, Wendy A Wells, Gregory J Tsongalis
Our ability to now study disease at the most fundamental molecular level has led to a reclassification of human cancers into numerous subtypes that vary in disease progression and response to therapy. Like most solid tumors, breast cancer is a heterogeneous disease with considerable variation in histological and biological features. Triple negative breast cancer (TNBC) is a subtype of breast cancer in which estrogen receptor and progesterone receptor are not expressed, and human epidermal growth factor receptor 2 is not amplified or overexpressed...
July 19, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28733441/molecular-screening-for-cancer-treatment-optimization-moscato-01-in-pediatric-patients-a-single-institutional-prospective-molecular-stratification-trial
#20
Anne Catherine Harttrampf, Ludovic Lacroix, Marc Deloger, Frederic Deschamps, Stéphanie Puget, Nathalie Auger, Philippe Vielh, Pascale Varlet, Zsofia Balogh, Samuel Abbou, Adrien Allorant, Dominique Valteau-Couanet, Sabine Sarnacki, Louise Galmiche, Guillaume Meurice, Véronique Minard-Colin, Jacques Grill, Laurence Brugières, Christelle Dufour, Nathalie Gaspar, Stefan Michiels, Gilles Vassal, Jean-Charles Soria, Birgit Geoerger
This single institutional feasibility study prospectively characterized genomic alterations in recurrent or refractory solid tumors of pediatric patients in order to select a targeted therapy.<br /><br />Experimental Design: Following treatment failure patients with signed consent and aged above 6 months, underwent tumor biopsy or surgical resection of primary or metastatic tumor site.  These newly acquired samples were analyzed by comparative genomic hybridization array, next generation sequencing for 75 target genes, whole exome and RNA sequencing...
July 21, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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