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https://www.readbyqxmd.com/read/28430547/enhancing-insights-into-pulmonary-vascular-disease-pvd-through-a-precision-medicine-approach-a-joint-nhlbi-cmref-workshop-report
#1
John H Newman, Stuart Rich, Steven H Abman, John H Alexander, John Barnard, Gerald J Beck, Raymond L Benza, Todd M Bull, Stephen Y Chan, Hyung J Chun, Declan Doogan, Jocelyn Dupuis, Serpil C Erzurum, Robert P Frantz, Mark Geraci, Hunter Gillies, Mark Gladwin, Michael P Gray, Anna R Hemnes, Roy S Herbst, Adrian F Hernandez, Nicholas S Hill, Evelyn M Horn, Kendall Hunter, Zhi-Cheng Jing, Roger Johns, Sanjay Kaul, Steven M Kawut, Tim Lahm, Jane A Leopold, Greg D Lewis, Stephen C Mathai, Vallerie V McLaughlin, Evangelos D Michelakis, Steven D Nathan, William Nichols, Grier Page, Marlene Rabinovitch, Jonathan Rich, Franz Rischard, Sharon Rounds, Sanjiv J Shah, Victor F Tapson, Naomi Lowy, Norman Stockbridge, Gail Weinmann, Lei Xiao
The Division of Lung Diseases of the National Heart, Lung and Blood Institute, (NHLBI) and the Cardiovascular Medical Education and Research Fund (CMREF), held a workshop to discuss to leverage of the anticipated scientific output from the recently launched "Redefining Pulmonary Hypertension (PH) through Pulmonary Vascular Disease Phenomics" (PVDOMICS) program. PVDOMICS is a protocol driven network to analyze PH patient populations to define novel pulmonary vascular disease (PVD) phenotypes. Basic, translational and clinical investigators, patient advocacy organizations, regulatory agencies, and pharmaceutical industry experts discussed the application of precision medicine to PVD clinical trials...
April 21, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28426890/fine-mapping-of-lipid-regions-in-global-populations-discovers-ethnic-specific-signals-and-refines-previously-identified-lipid-loci
#2
Niha Zubair, Mariaelisa Graff, Jose Luis Ambite, William S Bush, Gleb Kichaev, Yingchang Lu, Ani Manichaikul, Wayne H-H Sheu, Devin Absher, Themistocles L Assimes, Suzette J Bielinski, Erwin P Bottinger, Petra Buzkova, Lee-Ming Chuang, Ren-Hua Chung, Barbara Cochran, Logan Dumitrescu, Omri Gottesman, Jeffrey W Haessler, Christopher Haiman, Gerardo Heiss, Chao A Hsiung, Yi-Jen Hung, Chii-Min Hwu, Jyh-Ming J Juang, Loic Le Marchand, I-Te Lee, Wen-Jane Lee, Li-An Lin, Danyu Lin, Shih-Yi Lin, Rachel H Mackey, Lisa W Martin, Bogdan Pasaniuc, Ulrike Peters, Irene Predazzi, Thomas Quertermous, Alex P Reiner, Jennifer Robinson, Jerome I Rotter, Kelli K Ryckman, Pamela J Schreiner, Eli Stahl, Ran Tao, Michael Y Tsai, Lindsay L Waite, Tzung-Dau Wang, Steven Buyske, Yii-Der Ida Chen, Iona Cheng, Dana C Crawford, Ruth J F Loos, Stephen S Rich, Myriam Fornage, Kari E North, Charles Kooperberg, Cara L Carty
Genome-wide association studies have identified over 150 loci associated with lipid traits, however, no large-scale studies exist for Hispanics and other minority populations. Additionally, the genetic architecture of lipid-influencing loci remains largely unknown. We performed one of the most racially/ethnically diverse fine-mapping genetic studies of HDL-C, LDL-C, and triglycerides to-date using SNPs on the MetaboChip array on 54,119 individuals: 21,304 African Americans, 19,829 Hispanic Americans, 12,456 Asians, and 530 American Indians...
December 15, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28424564/new-developments-in-the-management-of-narcolepsy
#3
REVIEW
Vivien C Abad, Christian Guilleminault
Narcolepsy is a life-long, underrecognized sleep disorder that affects 0.02%-0.18% of the US and Western European populations. Genetic predisposition is suspected because of narcolepsy's strong association with HLA DQB1*06-02, and genome-wide association studies have identified polymorphisms in T-cell receptor loci. Narcolepsy pathophysiology is linked to loss of signaling by hypocretin-producing neurons; an autoimmune etiology possibly triggered by some environmental agent may precipitate hypocretin neuronal loss...
2017: Nature and Science of Sleep
https://www.readbyqxmd.com/read/28423653/a-novel-microrna-signature-predicts-survival-in-stomach-adenocarcinoma
#4
Bowen Ding, Xujie Gao, Hui Li, Liren Liu, Xishan Hao
Recent microRNA (miRNA) expression profiling studies suggest the clinical use of miRNAs as potential prognostic biomarkers in various malignancies. In this study, aiming to identify microRNAs with prognostic value for overall survival (OS) in stomach adenocarcinoma (STAD) patients, we analyzed the miRNA expression profiles and the associated clinical characteristics in 380 STAD samples from The Cancer Genome Atlas (TCGA) dataset. An eight-miRNA signature for predicting OS in STAD patients was identified and self-validated by survival analysis and semi-supervised principal components method...
March 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28423518/a-novel-pathogenic-splice-acceptor-site-germline-mutation-in-intron-14-of-the-apc-gene-in-a-chinese-family-with-familial-adenomatous-polyposis
#5
Dan Wang, Shengyun Liang, Zhao Zhang, Guoru Zhao, Yuan Hu, Shengran Liang, Xipeng Zhang, Santasree Banerjee
Familial adenomatous polyposis (FAP) is an autosomal dominant precancerous condition, clinically characterized by the presence of multiple colorectal adenomas or polyps. Patients with FAP has a high risk of developing colorectal cancer (CRC) from these colorectal adenomatous polyps by the mean age of diagnosis at 40 years. Germline mutations of the APC gene cause familial adenomatous polyposis (FAP). Colectomy has recommended for the FAP patients with significant polyposis. Here, we present a clinical molecular study of a four generation Chinese family with FAP...
March 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28422577/enrichment-of-zebrafish-danio-rerio-hamilton-1822-diet-with-polyunsaturated-fatty-acids-improves-fecundity-and-larvae-quality
#6
Joanna Nowosad, Dariusz Kucharczyk, Katarzyna Targońska
The zebrafish is a freshwater fish of the Cyprinidae family, which is frequently used in scientific research. It owes its popularity to its genome, whose structure is comparable to the human genome and, for this reason, this species is often used in human medical research. However, such research requires high-quality material to conduct tests producing repeatable results. This study examines the effect of providing feed enriched with essential fatty acids, especially docosahexaenoic acid, to zebrafish spawners on fertility as well as the survival rate and growth of their offspring...
April 19, 2017: Zebrafish
https://www.readbyqxmd.com/read/28419628/hla-hd-an-accurate-hla-typing-algorithm-for-next-generation-sequencing-data
#7
Shuji Kawaguchi, Koichiro Higasa, Masakazu Shimizu, Ryo Yamada, Fumihiko Matsuda
The accurate typing of HLA alleles is critical for a variety of medical applications, such as genomic studies of multifactorial diseases, including immune system and inflammation-related disorders, and donor selection in organ transplantation and regenerative medicine. Here we developed a new algorithm for determining HLA alleles using next-generation sequencing (NGS) results. The method consists of constructing an extensive dictionary of HLA alleles, precise mapping of the NGS reads, and calculating a score based on weighted read counts to select the most suitable pair of alleles...
April 16, 2017: Human Mutation
https://www.readbyqxmd.com/read/28418852/structural-homologies-between-phenformin-lipitor-and-gleevec-aim-the-same-metabolic-oncotarget-in-leukemia-and-melanoma
#8
REVIEW
Gábor Somlyai, T Que Collins, Emmanuelle J Meuillet, Patel Hitendra, Dominic P D'Agostino, László G Boros
Phenformin's recently demonstrated efficacy in melanoma and Gleevec's demonstrated anti-proliferative action in chronic myeloid leukemia may lie within these drugs' significant pharmacokinetics, pharmacodynamics and structural homologies, which are reviewed herein. Gleevec's success in turning a fatal leukemia into a manageable chronic disease has been trumpeted in medical, economic, political and social circles because it is considered the first successful targeted therapy. Investments have been immense in omics analyses and while in some cases they greatly helped the management of patients, in others targeted therapies failed to achieve clinically stable recurrence-free disease course or to substantially extend survival...
March 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28417969/massive-introgression-drives-species-radiation-at-the-range-limit-of-anopheles-gambiae
#9
José L Vicente, Christopher S Clarkson, Beniamino Caputo, Bruno Gomes, Marco Pombi, Carla A Sousa, Tiago Antao, João Dinis, Giordano Bottà, Emiliano Mancini, Vincenzo Petrarca, Daniel Mead, Eleanor Drury, James Stalker, Alistair Miles, Dominic P Kwiatkowski, Martin J Donnelly, Amabélia Rodrigues, Alessandra Della Torre, David Weetman, João Pinto
Impacts of introgressive hybridisation may range from genomic erosion and species collapse to rapid adaptation and speciation but opportunities to study these dynamics are rare. We investigated the extent, causes and consequences of a hybrid zone between Anopheles coluzzii and Anopheles gambiae in Guinea-Bissau, where high hybridisation rates appear to be stable at least since the 1990s. Anopheles gambiae was genetically partitioned into inland and coastal subpopulations, separated by a central region dominated by A...
April 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28416812/a-new-locus-regulating-micall2-expression-was-identified-for-association-with-executive-inhibition-in-children-with-attention-deficit-hyperactivity-disorder
#10
L Yang, S Chang, Q Lu, Y Zhang, Z Wu, X Sun, Q Cao, Y Qian, T Jia, B Xu, Q Duan, Y Li, K Zhang, G Schumann, D Liu, J Wang, Y Wang, L Lu
Impaired executive inhibition is a core deficit of attention deficit hyperactivity disorder (ADHD), which is a common childhood-onset psychiatric disorder with high heritability. In this study, we performed a two-stage genome-wide association study of executive inhibition in ADHD in Han Chinese. We used the Stroop color-word interference test to evaluate executive inhibition. After quality control, 780 samples with phenotype and covariate data were included in the discovery stage, whereas 922 samples were included in the replication stage...
April 18, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28416512/investigating-the-genetic-architecture-of-the-pr-interval-using-clinical-phenotypes
#11
Jonathan D Mosley, M Benjamin Shoemaker, Quinn S Wells, Dawood Darbar, Christian M Shaffer, Todd L Edwards, Lisa Bastarache, Catherine A McCarty, Will Thompson, Christopher G Chute, Gail P Jarvik, David R Crosslin, Eric B Larson, Iftikhar J Kullo, Jennifer A Pacheco, Peggy L Peissig, Murray H Brilliant, James G Linneman, John S Witte, Josh C Denny, Dan M Roden
BACKGROUND: One potential use for the PR interval is as a biomarker of disease risk. We hypothesized that quantifying the shared genetic architectures of the PR interval and a set of clinical phenotypes would identify genetic mechanisms contributing to PR variability and identify diseases associated with a genetic predictor of PR variability. METHODS AND RESULTS: We used ECG measurements from the ARIC study (Atherosclerosis Risk in Communities; n=6731 subjects) and 63 genetically modulated diseases from the eMERGE network (Electronic Medical Records and Genomics; n=12 978)...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28415857/sharing-data-to-build-a-medical-information-commons-from-bermuda-to-the-global-alliance
#12
Robert Cook-Deegan, Rachel A Ankeny, Kathryn Maxson Jones
The Human Genome Project modeled its open science ethos on nematode biology, most famously through daily release of DNA sequence data based on the 1996 Bermuda Principles. That open science philosophy persists, but daily, unfettered release of data has had to adapt to constraints occasioned by the use of data from individual people, broader use of data not only by scientists but also by clinicians and individuals, the global reach of genomic applications and diverse national privacy and research ethics laws, and the rising prominence of a diverse commercial genomics sector...
April 17, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28415856/gene-and-variant-annotation-for-mendelian-disorders-in-the-era-of-advanced-sequencing-technologies
#13
Samya Chakravorty, Madhuri Hegde
Comprehensive annotations of genetic and noncoding regions and corresponding accurate variant classification for Mendelian diseases are the next big challenge in the new genomic era of personalized medicine. Progress in the development of faster and more accurate pipelines for genome annotation and variant classification will lead to the discovery of more novel disease associations and candidate therapeutic targets. This ultimately will facilitate better patient recruitment in clinical trials. In this review, we describe the trends in research at the intersection of basic and clinical genomics that aims to increase understanding of overall genomic complexity, complex inheritance patterns of disease, and patient-phenotype-specific genomic associations...
April 17, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28413930/relationship-of-genetic-variants-with-procedural-pain-anxiety-and-distress-in-children
#14
Anne L Ersig, Debra L Schutte, Jennifer Standley, Elizabeth Leslie, Bridget Zimmerman, Charmaine Kleiber, Kirsten Hanrahan, Jeffrey C Murray, Ann Marie McCarthy
OBJECTIVE: This study used a candidate gene approach to examine genomic variation associated with pain, anxiety, and distress in children undergoing a medical procedure. STUDY DESIGN: Children aged 4-10 years having an IV catheter insertion were recruited from three Midwestern children's hospitals. Self-report measures of pain, anxiety, and distress were obtained as well as an observed measure of distress. Samples were collected from children and biological parents for analysis of genomic variation...
May 2017: Biological Research for Nursing
https://www.readbyqxmd.com/read/28408323/apolipoprotein-a-isoform-size-lipoprotein-a-concentration-and-coronary-artery-disease-a-mendelian-randomisation-analysis
#15
Danish Saleheen, Philip C Haycock, Wei Zhao, Asif Rasheed, Adam Taleb, Atif Imran, Shahid Abbas, Faisal Majeed, Saba Akhtar, Nadeem Qamar, Khan Shah Zaman, Zia Yaqoob, Tahir Saghir, Syed Nadeem Hasan Rizvi, Anis Memon, Nadeem Hayyat Mallick, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-Ur-Rehman Memon, Khalid Mahmood, Naveeduddin Ahmed, Philippe Frossard, Sotirios Tsimikas, Joseph L Witztum, Santica Marcovina, Manjinder Sandhu, Daniel J Rader, John Danesh
BACKGROUND: The lipoprotein(a) pathway is a causal factor in coronary heart disease. We used a genetic approach to distinguish the relevance of two distinct components of this pathway, apolipoprotein(a) isoform size and circulating lipoprotein(a) concentration, to coronary heart disease. METHODS: In this mendelian randomisation study, we measured lipoprotein(a) concentration and determined apolipoprotein(a) isoform size with a genetic method (kringle IV type 2 [KIV2] repeats in the LPA gene) and a serum-based electrophoretic assay in patients and controls (frequency matched for age and sex) from the Pakistan Risk of Myocardial Infarction Study (PROMIS)...
April 10, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28407363/de-novo-unbalanced-translocation-4p-duplication-8p-deletion-in-a-patient-with-autism-ocd-and-overgrowth-syndrome
#16
Angela Sagar, Dalila Pinto, Fedra Najjar, Stephen J Guter, Carol Macmillan, Edwin H Cook
Chromosomal abnormalities, such as unbalanced translocations and copy number variants (CNVs), are found in autism spectrum disorders (ASDs) [Sanders et al. () Neuron 70: 863-885]. Many chromosomal abnormalities, including sub microscopic genomic deletions and duplications, are missed by G-banded karyotyping or Fragile X screening alone and are picked up by chromosomal microarrays [Shen et al. () Pediatrics 125: e727-735]. Translocations involving chromosomes 4 and 8 are possibly the second most frequent translocation in humans and are often undetected in routine cytogenetics [Giglio et al...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28407004/epigenetically-repressing-human-cytomegalovirus-lytic-infection-and-reactivation-from-latency-in-thp-1-model-by-targeting-h3k9-and-h3k27-histone-demethylases
#17
Xin Gan, Haifeng Wang, Yanyan Yu, Wei Yi, Shanshan Zhu, En Li, Yu Liang
Human Cytomegalovirus (hCMV) infects a broad range of the population and establishes life-long latency in the infected individuals. Periodically the latently infected virus can reactivate and becomes a significant cause of morbidity and mortality in immunocompromised individuals. In latent infection, the viral genome is suppressed in a heterochromatic state and viral gene transcription is silenced. Upon reactivation, the repressive chromatin is remodeled to an active form, allowing viral lytic gene transcription, initiated by the expression of viral Immediate Early (IE) genes...
2017: PloS One
https://www.readbyqxmd.com/read/28406489/consensus-recommendation-for-a-diagnostic-guideline-for-acid-sphingomyelinase-deficiency
#18
Margaret M McGovern, Carlo Dionisi-Vici, Roberto Giugliani, Paul Hwu, Olivier Lidove, Zoltan Lukacs, Karl Eugen Mengel, Pramod K Mistry, Edward H Schuchman, Melissa P Wasserstein
Disclaimer:This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases. BACKGROUND: Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease...
April 13, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28405633/genomic-analysis-of-factors-associated-with-low-prevalence-of-antibiotic-resistance-in-extraintestinal-pathogenic-escherichia-coli-sequence-type-95-strains
#19
Craig M Stephens, Sheila Adams-Sapper, Manraj Sekhon, James R Johnson, Lee W Riley
Extraintestinal pathogenic Escherichia coli (ExPEC) strains belonging to multilocus sequence type 95 (ST95) are globally distributed and a common cause of infections in humans and domestic fowl. ST95 isolates generally show a lower prevalence of acquired antimicrobial resistance than other pandemic ExPEC lineages. We took a genomic approach to identify factors that may underlie reduced resistance. We fully assembled genomes for four ST95 isolates representing the four major fimH-based lineages within ST95 and also analyzed draft-level genomes from another 82 ST95 isolates, largely from the western United States...
March 2017: MSphere
https://www.readbyqxmd.com/read/28404232/pcr-based-molecular-characterization-of-blastocystis-hominis-subtypes-in-southwest-of-iran
#20
Shahram Khademvatan, Rahim Masjedizadeh, Ehsan Yousefi-Razin, Hamidreza Mahbodfar, Fakher Rahim, Elham Yousefi, Masoud Foroutan
Blastocystis hominis is the most common intestinal parasite found in humans and many other hosts. Pathogenicity of Blastocystis sp. remains controversial and it has been suggested that it may be associated with certain subtypes of organism. The aim of this study was to evaluate the molecular epidemiology of B. hominis and its subtype distribution in Ahvaz, southwest of Iran. During 2012-2014, a total of 481 samples were collected from patients referred to the medical laboratory centers in Ahvaz for stool examination...
April 9, 2017: Journal of Infection and Public Health
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