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Klein Christoph

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https://www.readbyqxmd.com/read/28433078/haplotype-counting-for-sensitive-chimerism-testing-potential-for-early-leukemia-relapse-detection
#1
Marija Debeljak, Evelina Mocci, Max C Morrison, Aparna Pallavajjalla, Katie Beierl, Marie Amiel, Michaël Noë, Laura D Wood, Ming-Tseh Lin, Christopher D Gocke, Alison P Klein, Ephraim J Fuchs, Richard J Jones, James R Eshleman
Fields of forensics, transplantation, and paternity rely on human identity testing. Currently, this is accomplished through amplification of microsatellites followed by capillary electrophoresis. An alternative and theoretically better approach uses multiple single-nucleotide polymorphisms located within a small region of DNA, a method we initially developed using HLA-A and called haplotype counting. Herein, we validated seven additional polymorphic loci, sequenced a total of 45 individuals from three of the 1000 Genomes populations (15 from each), and determined the number of haplotypes, heterozygosity, and polymorphic information content for each locus...
May 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28430825/discovery-and-fine-mapping-of-adiposity-loci-using-high-density-imputation-of-genome-wide-association-studies-in-individuals-of-african-ancestry-african-ancestry-anthropometry-genetics-consortium
#2
Maggie C Y Ng, Mariaelisa Graff, Yingchang Lu, Anne E Justice, Poorva Mudgal, Ching-Ti Liu, Kristin Young, Lisa R Yanek, Mary F Feitosa, Mary K Wojczynski, Kristin Rand, Jennifer A Brody, Brian E Cade, Latchezar Dimitrov, Qing Duan, Xiuqing Guo, Leslie A Lange, Michael A Nalls, Hayrettin Okut, Salman M Tajuddin, Bamidele O Tayo, Sailaja Vedantam, Jonathan P Bradfield, Guanjie Chen, Wei-Min Chen, Alessandra Chesi, Marguerite R Irvin, Badri Padhukasahasram, Jennifer A Smith, Wei Zheng, Matthew A Allison, Christine B Ambrosone, Elisa V Bandera, Traci M Bartz, Sonja I Berndt, Leslie Bernstein, William J Blot, Erwin P Bottinger, John Carpten, Stephen J Chanock, Yii-Der Ida Chen, David V Conti, Richard S Cooper, Myriam Fornage, Barry I Freedman, Melissa Garcia, Phyllis J Goodman, Yu-Han H Hsu, Jennifer Hu, Chad D Huff, Sue A Ingles, Esther M John, Rick Kittles, Eric Klein, Jin Li, Barbara McKnight, Uma Nayak, Barbara Nemesure, Adesola Ogunniyi, Andrew Olshan, Michael F Press, Rebecca Rohde, Benjamin A Rybicki, Babatunde Salako, Maureen Sanderson, Yaming Shao, David S Siscovick, Janet L Stanford, Victoria L Stevens, Alex Stram, Sara S Strom, Dhananjay Vaidya, John S Witte, Jie Yao, Xiaofeng Zhu, Regina G Ziegler, Alan B Zonderman, Adebowale Adeyemo, Stefan Ambs, Mary Cushman, Jessica D Faul, Hakon Hakonarson, Albert M Levin, Katherine L Nathanson, Erin B Ware, David R Weir, Wei Zhao, Degui Zhi, Donna K Arnett, Struan F A Grant, Sharon L R Kardia, Olufunmilayo I Oloapde, D C Rao, Charles N Rotimi, Michele M Sale, L Keoki Williams, Babette S Zemel, Diane M Becker, Ingrid B Borecki, Michele K Evans, Tamara B Harris, Joel N Hirschhorn, Yun Li, Sanjay R Patel, Bruce M Psaty, Jerome I Rotter, James G Wilson, Donald W Bowden, L Adrienne Cupples, Christopher A Haiman, Ruth J F Loos, Kari E North
Genome-wide association studies (GWAS) have identified >300 loci associated with measures of adiposity including body mass index (BMI) and waist-to-hip ratio (adjusted for BMI, WHRadjBMI), but few have been identified through screening of the African ancestry genomes. We performed large scale meta-analyses and replications in up to 52,895 individuals for BMI and up to 23,095 individuals for WHRadjBMI from the African Ancestry Anthropometry Genetics Consortium (AAAGC) using 1000 Genomes phase 1 imputed GWAS to improve coverage of both common and low frequency variants in the low linkage disequilibrium African ancestry genomes...
April 21, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28423178/head-to-head-comparison-of-structurally-unrelated-dpp4-inhibitors-in-the-setting-of-renal-ischemia-reperfusion-injury
#3
Christoph Reichetzeder, Karoline von Websky, Oleg Tsuprykov, Azadeh Mohagheghi Samarin, Luise Gabriele Falke, Sulistyo Emantoko Dwi Putra, Ahmed Abdallah Hasan, Viktoriia Antonenko, Caterina Curato, Jörg Rippman, Thomas Klein, Berthold Hocher
BACKGROUND AND PURPOSE: Results regarding protective effects of DPP4 inhibitors in renal ischemia-reperfusion-injury (IRI) are conflicting. The current study performed a head-to-head comparison of structurally unrelated DPP4 inhibitors in the setting of renal IRI. EXPERIMENTAL APPROACH: IRI was induced in uninephrectomized male rats by renal artery clamping for 30 minutes. The sham group was uninephrectomized but not subjected to IRI. DPP4 inhibitors or vehicle were given p...
April 18, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28420375/silent-progression-in-patients-with-rheumatoid-arthritis-is-das28-remission-an-insufficient-goal-in-ra-results-from-the-german-remission-plus-cohort
#4
Philipp Sewerin, Stefan Vordenbaeumen, Annika Hoyer, Ralph Brinks, Christian Buchbender, Falk Miese, Christoph Schleich, Sabine Klein, Matthias Schneider, Benedikt Ostendorf
BACKGROUND: Remission is arguably the ultimate therapeutic goal in rheumatoid arthritis (RA). Applying modern strategies, clinical remission can be achieved in a substantial number of patients with early RA (ERA). Even in those patients, the number and scope of erosions can increase. We, therefore, investigated the value of MRI for the detection of radiological progression in patients with DAS28 improvement and/or clinical remission of the German Remission-plus cohort. METHODS: Data-sets of 80 RA patients (according to 2010 ACR/EULAR criteria) from the Remission-plus study cohort, who fulfilled the following criteria, were retrospectively analysed: availability of two consecutive MRI scans (low-field MRI, follow-up interval 1 year) of the clinically dominant hand and wrist, and the presence of DAS28 (CRP) scores at both time points, which was used to assess disease activity...
April 19, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28408440/global-cardiovascular-and-renal-outcomes-of-reduced-gfr
#5
Bernadette Thomas, Kunihiro Matsushita, Kalkidan Hassen Abate, Ziyad Al-Aly, Johan Ärnlöv, Kei Asayama, Robert Atkins, Alaa Badawi, Shoshana H Ballew, Amitava Banerjee, Lars Barregård, Elizabeth Barrett-Connor, Sanjay Basu, Aminu K Bello, Isabela Bensenor, Jaclyn Bergstrom, Boris Bikbov, Christopher Blosser, Hermann Brenner, Juan-Jesus Carrero, Steve Chadban, Massimo Cirillo, Monica Cortinovis, Karen Courville, Lalit Dandona, Rakhi Dandona, Kara Estep, João Fernandes, Florian Fischer, Caroline Fox, Ron T Gansevoort, Philimon N Gona, Orlando M Gutierrez, Samer Hamidi, Sarah Wulf Hanson, Jonathan Himmelfarb, Simerjot K Jassal, Sun Ha Jee, Vivekanand Jha, Aida Jimenez-Corona, Jost B Jonas, Andre Pascal Kengne, Yousef Khader, Young-Ho Khang, Yun Jin Kim, Barbara Klein, Ronald Klein, Yoshihiro Kokubo, Dhaval Kolte, Kristine Lee, Andrew S Levey, Yongmei Li, Paulo Lotufo, Hassan Magdy Abd El Razek, Walter Mendoza, Hirohito Metoki, Yejin Mok, Isao Muraki, Paul M Muntner, Hiroyuki Noda, Takayoshi Ohkubo, Alberto Ortiz, Norberto Perico, Kevan Polkinghorne, Rajaa Al-Radaddi, Giuseppe Remuzzi, Gregory Roth, Dietrich Rothenbacher, Michihiro Satoh, Kai-Uwe Saum, Monika Sawhney, Ben Schöttker, Anoop Shankar, Michael Shlipak, Diego Augusto Santos Silva, Hideaki Toyoshima, Kingsley Ukwaja, Mitsumasa Umesawa, Stein Emil Vollset, David G Warnock, Andrea Werdecker, Kazumasa Yamagishi, Yuichiro Yano, Naohiro Yonemoto, Maysaa El Sayed Zaki, Mohsen Naghavi, Mohammad H Forouzanfar, Christopher J L Murray, Josef Coresh, Theo Vos
The burden of premature death and health loss from ESRD is well described. Less is known regarding the burden of cardiovascular disease attributable to reduced GFR. We estimated the prevalence of reduced GFR categories 3, 4, and 5 (not on RRT) for 188 countries at six time points from 1990 to 2013. Relative risks of cardiovascular outcomes by three categories of reduced GFR were calculated by pooled random effects meta-analysis. Results are presented as deaths for outcomes of cardiovascular disease and ESRD and as disability-adjusted life years for outcomes of cardiovascular disease, GFR categories 3, 4, and 5, and ESRD...
April 13, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28389149/discovery-of-selective-orally-bioavailable-n-linked-arylsulfonamide-nav1-7-inhibitors-with-pain-efficacy-in-mice
#6
Anthony J Roecker, Melissa Egbertson, Kristen L G Jones, Robert Gomez, Richard L Kraus, Yuxing Li, Amy Jo Koser, Mark O Urban, Rebecca Klein, Michelle Clements, Jacqueline Panigel, Christopher Daley, Jixin Wang, Eleftheria N Finger, John Majercak, Vincent Santarelli, Irene Gregan, Matthew Cato, Tracey Filzen, Aneta Jovanovska, Ying-Hong Wang, Deping Wang, Leo A Joyce, Edward C Sherer, Xuanjia Peng, Xiu Wang, Haiyan Sun, Paul J Coleman, Andrea K Houghton, Mark E Layton
The voltage-gated sodium channel Nav1.7 is a genetically validated target for the treatment of pain with gain-of-function mutations in man eliciting a variety of painful disorders and loss-of-function mutations affording insensitivity to pain. Unfortunately, drugs thought to garner efficacy via Nav1 inhibition have undesirable side effect profiles due to their lack of selectivity over channel isoforms. Herein we report the discovery of a novel series of orally bioavailable arylsulfonamide Nav1.7 inhibitors with high levels of selectivity over Nav1...
March 30, 2017: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/28374682/biofabricated-soft-network-composites-for-cartilage-tissue-engineering
#7
Onur Bas, Elena De-Juan-Pardo, Christoph Meinert, Davide D'Angella, Jeremy Baldwin, Laura Bray, R Wellard, Stefan Kollmannsberger, Ernst Rank, Carsten Werner, Travis Klein, Isabelle Catelas, Dietmar Werner Hutmacher
Articular cartilage from a material science point of view is a soft network composite that plays a critical role in load-bearing joints during dynamic loading. Its composite structure, consisting of a collagen fiber network and a hydrated proteoglycan matrix, gives rise to the complex mechanical properties of the tissue including viscoelasticity and stress relaxation. Melt Electrospinning Writing (MEW) allows the design and fabrication of medical grade polycaprolactone (mPCL) fibrous networks for the reinforcement of soft hydrogel matrices for cartilage tissue engineering...
April 4, 2017: Biofabrication
https://www.readbyqxmd.com/read/28369036/chromatin-remodeling-factor-smarcd2-regulates-transcriptional-networks-controlling-differentiation-of-neutrophil-granulocytes
#8
Maximilian Witzel, Daniel Petersheim, Yanxin Fan, Ehsan Bahrami, Tomas Racek, Meino Rohlfs, Jacek Puchałka, Christian Mertes, Julien Gagneur, Christoph Ziegenhain, Wolfgang Enard, Asbjørg Stray-Pedersen, Peter D Arkwright, Miguel R Abboud, Vahid Pazhakh, Graham J Lieschke, Peter M Krawitz, Maik Dahlhoff, Marlon R Schneider, Eckhard Wolf, Hans-Peter Horny, Heinrich Schmidt, Alejandro A Schäffer, Christoph Klein
We identify SMARCD2 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily D, member 2), also known as BAF60b (BRG1/Brahma-associated factor 60b), as a critical regulator of myeloid differentiation in humans, mice, and zebrafish. Studying patients from three unrelated pedigrees characterized by neutropenia, specific granule deficiency, myelodysplasia with excess of blast cells, and various developmental aberrations, we identified three homozygous loss-of-function mutations in SMARCD2...
April 3, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28353165/poikiloderma-with-neutropenia-in-morocco-a-report-of-four-cases
#9
Ayoub Aglaguel, Houria Abdelghaffar, Fatima Ailal, Norddine Habti, Sebastian Hesse, Naschla Kohistani, Christoph Klein, Ahmed Aziz Bousfiha
PURPOSE: Poikiloderma with Neutropenia (PN) is inherited genodermatosis which results from a biallelic mutation in the USB1 gene (U Six Biogenesis 1). PN, first described in Navajo Native Americans, is characterized by early onset poikiloderma, pachyonychia, palmo-plantar hyperkeratosis, and permanent neutropenia. This condition results in frequent respiratory tract infections during infancy and childhood. From 2011 to 2013, four cases of PN were diagnosed in Morocco. In this paper, we report the first four cases of PN diagnosed in Morocco, out of three unrelated consanguinous families...
March 28, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28342229/real-world-experience-with-the-all-oral-interferon-free-regimen-of-ombitasvir-paritaprevir-ritonavir-and-dasabuvir-for-the-treatment-of-chronic-hepatitis-c-virus-infection-in-the-german-hepatitis-c-registry
#10
Tania M Welzel, Holger Hinrichsen, Christoph Sarrazin, Peter Buggisch, Axel Baumgarten, Stefan Christensen, Thomas Berg, Stefan Mauss, Gerlinde Teuber, Kerstin Stein, Katja Deterding, Florian van Bömmel, Renate Heyne, Christine John, Tim Zimmermann, Thomas Lutz, Eckart Schott, Jan Hettinger, Henning Kleine, Bettina König, Dietrich Hüppe, Heiner Wedemeyer
Real-world studies are relevant to complement clinical trials on novel antiviral therapies against chronic hepatitis C, however clinical practice data are currently limited. This study investigated effectiveness and safety of ombitasvir/paritaprevir/ritonavir (OBV/PTV/r) ± dasabuvir (DSV) ± ribavirin (RBV) for treatment of HCV genotype (GT) 1 and GT4 infection in a large real-world cohort. The German Hepatitis C Registry is an observational cohort study prospectively collecting clinical practice data on DAA therapies...
March 25, 2017: Journal of Viral Hepatitis
https://www.readbyqxmd.com/read/28336347/solution-conformations-of-a-linked-construct-of-the-zika-virus-ns2b-ns3-protease
#11
Mithun C Mahawaththa, Benjamin J G Pearce, Monika Szabo, Bim Graham, Christian D Klein, Christoph Nitsche, Gottfried Otting
The Zika virus presents a serious risk for global health. Crystal structures of different constructs of the Zika virus NS2B-NS3 protease (NS2B-NS3pro) have been determined with the aim to provide a basis for rational drug discovery. In these structures, the C-terminal β-hairpin of NS2B, NS2Bc, was observed to be either disordered (open conformation) or bound to NS3pro complementing the substrate binding site (closed conformation). Enzymatically active constructs of flaviviral NS2B-NS3 proteases commonly used for inhibitor testing contain a covalent peptide linker between NS2B and NS3pro...
June 2017: Antiviral Research
https://www.readbyqxmd.com/read/28332497/epigenetically-driven-anatomical-diversity-of-synovial-fibroblasts-guides-joint-specific-fibroblast-functions
#12
Mojca Frank-Bertoncelj, Michelle Trenkmann, Kerstin Klein, Emmanuel Karouzakis, Hubert Rehrauer, Anna Bratus, Christoph Kolling, Maria Armaka, Andrew Filer, Beat A Michel, Renate E Gay, Christopher D Buckley, George Kollias, Steffen Gay, Caroline Ospelt
A number of human diseases, such as arthritis and atherosclerosis, include characteristic pathology in specific anatomical locations. Here we show transcriptomic differences in synovial fibroblasts from different joint locations and that HOX gene signatures reflect the joint-specific origins of mouse and human synovial fibroblasts and synovial tissues. Alongside DNA methylation and histone modifications, bromodomain and extra-terminal reader proteins regulate joint-specific HOX gene expression. Anatomical transcriptional diversity translates into joint-specific synovial fibroblast phenotypes with distinct adhesive, proliferative, chemotactic and matrix-degrading characteristics and differential responsiveness to TNF, creating a unique microenvironment in each joint...
March 23, 2017: Nature Communications
https://www.readbyqxmd.com/read/28328956/the-impact-of-pulmonary-metastasectomy-in-patients-with-previously-resected-colorectal-cancer-liver-metastases
#13
Armin Wiegering, Johannes Riegel, Johanna Wagner, Volker Kunzmann, Johannes Baur, Thorsten Walles, Ulrich Dietz, Stefan Loeb, Christoph-Thomas Germer, Ulrich Steger, Ingo Klein
BACKGROUND: 40-50% of patients with colorectal cancer (CRC) will develop liver metastases (CRLM) during the course of the disease. One third of these patients will additionally develop pulmonary metastases. METHODS: 137 consecutive patients with CRLM, were analyzed regarding survival data, clinical, histological data and treatment. Results were stratified according to the occurrence of pulmonary metastases and metastases resection. RESULTS: 39% of all patients with liver resection due to CRLM developed additional lung metastases...
2017: PloS One
https://www.readbyqxmd.com/read/28289168/wild-type-ttr-neuropathy-with-cardiomyopathy-presenting-with-burning-feet
#14
Amy C Visser, Christopher J Klein
No abstract text is available yet for this article.
March 14, 2017: Neurology
https://www.readbyqxmd.com/read/28283061/functional-selectivity-in-cytokine-signaling-revealed-through-a-pathogenic-epo-mutation
#15
Ah Ram Kim, Jacob C Ulirsch, Stephan Wilmes, Ekrem Unal, Ignacio Moraga, Musa Karakukcu, Daniel Yuan, Shideh Kazerounian, Nour J Abdulhay, David S King, Namrata Gupta, Stacey B Gabriel, Eric S Lander, Turkan Patiroglu, Alper Ozcan, Mehmet Akif Ozdemir, K Christopher Garcia, Jacob Piehler, Hanna T Gazda, Daryl E Klein, Vijay G Sankaran
Cytokines are classically thought to stimulate downstream signaling pathways through monotonic activation of receptors. We describe a severe anemia resulting from a homozygous mutation (R150Q) in the cytokine erythropoietin (EPO). Surprisingly, the EPO R150Q mutant shows only a mild reduction in affinity for its receptor but has altered binding kinetics. The EPO mutant is less effective at stimulating erythroid cell proliferation and differentiation, even at maximally potent concentrations. While the EPO mutant can stimulate effectors such as STAT5 to a similar extent as the wild-type ligand, there is reduced JAK2-mediated phosphorylation of select downstream targets...
March 9, 2017: Cell
https://www.readbyqxmd.com/read/28277888/a-screening-approach-for-identifying-gliadin-neutralizing-antibodies-on-epithelial-intestinal-caco-2-cells
#16
Harald Hundsberger, Anita Koppensteiner, Elisabeth Hofmann, Doris Ripper, Maren Pflüger, Valerie Stadlmann, Christian Theodor Klein, Birgit Kreiseder, Michael Katzlinger, Andreas Eger, Florian Forster, Albert Missbichler, Christoph Wiesner
Celiac disease (CD) is a chronic inflammatory condition caused by the ingestion of gliadin-containing food in genetically susceptible individuals. Undigested peptides of gliadin exert various effects, including increased intestinal permeability and inflammation in the small intestine. Although many therapeutic approaches are in development, a gluten-free diet is the only effective treatment for CD. Affecting at least 1% of the population in industrialized countries, it is important to generate therapeutic options against CD...
March 1, 2017: SLAS Discovery
https://www.readbyqxmd.com/read/28270599/self-interrupted-synthesis-of-sterically-hindered-aliphatic-polyamide-dendrimers
#17
Davit Jishkariani, Christopher M MacDermaid, Yam N Timsina, Silvia Grama, Syeda S Gillani, Masoumeh Divar, Srujana S Yadavalli, Ralph-Olivier Moussodia, Pawaret Leowanawat, Angely M Berrios Camacho, Ricardo Walter, Mark Goulian, Michael L Klein, Virgil Percec
2,2-Bis(azidomethyl)propionic acid was prepared in four steps and 85% yield from the commercially available 2,2-bis(hydroxymethyl)propionic acid and used as the starting building block for the divergent, convergent, and double-stage convergent-divergent iterative methods for the synthesis of dendrimers and dendrons containing ethylenediamine (EDA), piperazine (PPZ), and methyl 2,2-bis(aminomethyl)propionate (COOMe) cores. These cores have the same multiplicity but different conformations. A diversity of synthetic methods were used for the synthesis of dendrimers and dendrons...
March 21, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28259232/guillain-barr%C3%A3-syndrome
#18
REVIEW
Eelco F M Wijdicks, Christopher J Klein
Guillain-Barré syndrome is an acute inflammatory immune-mediated polyradiculoneuropathy presenting typically with tingling, progressive weakness, and pain. Variants and formes frustes may complicate recognition. The best known variant is the sensory ataxic form of Miller Fisher syndrome, which also affects the oculomotor nerves and the brain stem. Divergent pathologic mechanisms lead to demyelinating, axonal, or mixed demyelinating-axonal damage. In the demyelinating form, yet to be identified antigens are inferred by complement activation, myelin destruction, and macrophage-activated cleanup...
March 2017: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/28250961/systematic-review-of-autosomal-recessive-ataxias-and-proposal-for-a-classification
#19
REVIEW
Marie Beaudin, Christopher J Klein, Guy A Rouleau, Nicolas Dupré
BACKGROUND: The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literature to examine all recessive ataxias in order to propose a new classification and properly circumscribe this field as new technologies are emerging for comprehensive targeted gene testing. METHODS: We searched Pubmed and Embase to identify original articles on recessive forms of ataxia in humans for which a causative gene had been identified...
2017: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/28211093/gsskat-rapid-gene-set-analysis-and-multiple-testing-correction-for-rare-variant-association-studies-using-weighted-linear-kernels
#20
Nicholas B Larson, Shannon McDonnell, Lisa Cannon Albright, Craig Teerlink, Janet Stanford, Elaine A Ostrander, William B Isaacs, Jianfeng Xu, Kathleen A Cooney, Ethan Lange, Johanna Schleutker, John D Carpten, Isaac Powell, Joan E Bailey-Wilson, Olivier Cussenot, Geraldine Cancel-Tassin, Graham G Giles, Robert J MacInnis, Christiane Maier, Alice S Whittemore, Chih-Lin Hsieh, Fredrik Wiklund, William J Catolona, William Foulkes, Diptasri Mandal, Rosalind Eeles, Zsofia Kote-Jarai, Michael J Ackerman, Timothy M Olson, Christopher J Klein, Stephen N Thibodeau, Daniel J Schaid
Next-generation sequencing technologies have afforded unprecedented characterization of low-frequency and rare genetic variation. Due to low power for single-variant testing, aggregative methods are commonly used to combine observed rare variation within a single gene. Causal variation may also aggregate across multiple genes within relevant biomolecular pathways. Kernel-machine regression and adaptive testing methods for aggregative rare-variant association testing have been demonstrated to be powerful approaches for pathway-level analysis, although these methods tend to be computationally intensive at high-variant dimensionality and require access to complete data...
May 2017: Genetic Epidemiology
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