Results 61 to 70 of about 2,716,384 (302)

Evaluating the Utility of Paired Tumor and Germline Targeted DNA Sequencing for Pediatric Oncology Patients: A Single Institution Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield and utility of universal paired tumor–normal multigene panel sequencing in newly diagnosed pediatric solid and central nervous system (CNS) tumor patients and to compare the detection of germline pathogenic/likely pathogenic variants (PV/LPVs) against established clinical referral criteria for cancer ...
Natalie Waligorski, Rebecca Ronsley, Shannon M. Stasi, Jeffrey Stevens, Erin R. Rudzinski, Christina M. Lockwood, Sarah E. S. Leary, Bonnie L. Cole, Michelle A. Ting, Vera Paulson   +9 more
wiley   +1 more source

Mutating OWLs: Semantic Mutation Testing for Ontologies [PDF]

Proceedings of the International Workshop on domAin specific Model-based AppRoaches to vErificaTion and validaTiOn, 2016
Ontologies are an essential component of semantic knowledge bases and applications, and nowadays they are used in a plethora of domains. Despite the maturity of ontology languages, support tools and engineering techniques, the testing and validation of ontologies is a field which still lacks consolidated approaches and tools.
openaire   +2 more sources

Survival analysis of DNA mutation motifs with penalized proportional hazards

, 2018
Antibodies, an essential part of our immune system, develop through an intricate process to bind a wide array of pathogens. This process involves randomly mutating DNA sequences encoding these antibodies to find variants with improved binding, though ...
Feng, Jean, Matsen IV, Frederick A., Minin, Vladimir N., Shaw, David A., Simon, Noah   +4 more
core   +2 more sources

Rates of lobar atrophy in asymptomatic MAPT mutation carriers. [PDF]

, 2019
IntroductionThe aim of this study was to investigate the rates of lobar atrophy in the asymptomatic microtubule-associated protein tau (MAPT) mutation carriers.MethodsMAPT mutation carriers (n = 14; 10 asymptomatic, 4 converters from ...
Boeve, Bradley F, Boxer, Adam L, Brushaber, Danielle, Chen, Qin, Dheel, Christina, Fields, Julie, Forsberg, Leah, Gavrilova, Ralitza, Gearhart, Debra, Graff-Radford, Jonathan, Graff-Radford, Neill R, Jack, Clifford R, Jones, David T, Kantarci, Kejal, Knopman, David S, Kremers, Walter K, Lapid, Maria, LEFFTDS Consortium, Lesnick, Timothy G, Rademakers, Rosa, Rosen, Howie, Senjem, Matthew, Syrjanen, Jeremy, Tosakulwong, Nirubol, Wszolek, Zbigniew K   +24 more
core   +2 more sources

Outcomes of Live Virus Vaccination in Patients With Vascular Anomalies Being Treated With Sirolimus

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Live vaccination in patients with vascular anomalies (VA) receiving sirolimus remains controversial due to immunosuppressive effects and theoretical risks. Procedure This single‐center retrospective study included patients with VA less than 4 years old at the start of sirolimus therapy who were incompletely vaccinated.
Svatava Merkle, Kiersten Ricci, Kelly Blache, Rebecca A. Marsh, Adrienne M. Hammill, Elissa Engel   +5 more
wiley   +1 more source

Mutational signatures are jointly shaped by DNA damage and repair

Nature Communications, 2020
Recent research has shown that mutational signatures reflective of the history of a cancer can be detected in a cancer genome. Here, using whole genome sequencing of DNA repair deficient and proficient nematodes exposed to genotoxins, the authors show ...
Nadezda V. Volkova, Bettina Meier, Víctor González-Huici, Simone Bertolini, Santiago Gonzalez, Harald Vöhringer, Federico Abascal, Iñigo Martincorena, Peter J. Campbell, Anton Gartner, Moritz Gerstung   +10 more
doaj   +1 more source

NRASQ61R Expression in Lymphatic Endothelial Cells Causes Enlarged Vessels, Hemorrhagic Chylous Effusions, and High Mortality in a Mouse Model of Kaposiform Lymphangiomatosis

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Kaposiform lymphangiomatosis (KLA) is an aggressive complex lymphatic anomaly. Patients exhibit malformed lymphatic vessels and often develop hemorrhagic effusions and elevated angiopoietin‐2 (Ang‐2) levels. A somatic NRAS p.Q61R (NRASQ61R) mutation has been associated with KLA.
C. Griffin McDaniel, Patricia Pastura, Joshua P. Scallan, Timothy D. Le Cras   +3 more
wiley   +1 more source

Adaptations Accumulated under Prolonged Resource Exhaustion Are Highly Transient

mSphere, 2020
Many nonsporulating bacterial species can survive for years within exhausted growth media in a state termed long-term stationary phase (LTSP). We have been carrying out evolutionary experiments aimed at elucidating the dynamics of genetic adaptation ...
Sarit Avrani, Sophia Katz, Ruth Hershberg   +2 more
doaj   +3 more sources

LittleDarwin: a Feature-Rich and Extensible Mutation Testing Framework for Large and Complex Java Systems

, 2017
Mutation testing is a well-studied method for increasing the quality of a test suite. We designed LittleDarwin as a mutation testing framework able to cope with large and complex Java software systems, while still being easily extensible with new ...
A Parsai, AJ Offutt, AJ Offutt, AJ Offutt, DR Kuhn, JD McGregor, K Beck, KN King, L Prechelt, PG Frankl, RA DeMillo, T Fawcett, Y Jia, Y Jia, YS Ma   +14 more
core   +3 more sources

The Fate (Outcome) of Clinically Apparent Single Lesion and Oligofocal Nephroblastomatosis Treated According to SIOP/GPOH Protocols for Wilms Tumor

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background The management of clinically apparent single lesions or oligofocal nephroblastomatosis, a facultative precursor of nephroblastoma, remains debated. Methods We retrospectively analyzed 37 patients with clinically apparent single or oligofocal nephroblastomatosis (two to three lesions per kidney) among 2347 patients registered between
Nils Welter, Jens‐Peter Schenk, Jenny Wegert, Manfred Gessler, Leo Kager, Stefan Wagenpfeil, Marina Müller, Jean‐Michel Wolff, Joerg Fuchs, Steven W. Warmann, Clemens‐Magnus Meier, Jochen Hubertus, Christian Rübe, Christian Vokuhl, Patrick Melchior, Lena Tschirner, Norbert Graf, Rhoikos Furtwängler   +17 more
wiley   +1 more source