Results 61 to 70 of about 361,695 (297)
GenDB - an open source genome annotation system for prokaryote genomes
Meyer F, Goesmann A, McHardy AC, et al. GenDB - an open source genome annotation system for prokaryote genomes. Nucleic Acids Research.
Rupp, Oliver +10 more
core +1 more source
ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu +8 more
wiley +1 more source
Introducing a corpus of conversational stories. Construction and annotation of the Narrative Corpus [PDF]
Although widely seen as critical both in terms of its frequency and its social significance as a prime means of encoding and perpetuating moral stance and configuring self and identity, conversational narrative has received little attention in corpus ...
O'Donnell, Matthew Brook +1 more
core +1 more source
Clinically Relevant Functional Annotation of Genotype [PDF]
Genetic testing was originally thought likely to generate deterministic predictions of many clinical outcomes in inherited disorders. Indeed, this premise was one of the original drivers of the precision medicine movement. However, the variable expression of final phenotypes even in the setting of large genetic effects has long reinforced the ...
Calum A, MacRae, Ramachandran S, Vasan
openaire +2 more sources
Functional Annotation Analytics of Genomes
Rhodopseudomonas palustris , a nonsulphur purple photosynthetic bacteria, has been extensively investigated for its metabolic versatility including ability to produce hydrogen gas from sunlight and biomass.
Shaneka S. Simmons +10 more
doaj +1 more source
ABSTRACT Background Children with acute lymphoblastic leukemia (ALL) are at risk of severe outcomes from SARS‐CoV‐2 (SCV2). In the post‐pandemic context, where most children have been infected with SCV2, there are limited data on whether vaccination remains beneficial in children with ALL.
Janna R. Shapiro +11 more
wiley +1 more source
AGMIAL: implementing an annotation strategy for prokaryote genomes as a distributed system
We have implemented a genome annotation system for prokaryotes called AGMIAL. Our approach embodies a number of key principles. First, expert manual annotators are seen as a critical component of the overall system; user interfaces were cyclically ...
Loux, Valentin +33 more
core +1 more source
The Role of Hematopoietic Cell Transplantation in Ataxia‐Telangiectasia
ABSTRACT Background Ataxia‐telangiectasia (A‐T) is a DNA repair disorder characterized by neurodegeneration, immunodeficiency, and cancer predisposition. Hematopoietic cell transplantation (HCT) is an established therapy in related disorders such as Fanconi anemia (FA) and Nijmegen breakage syndrome (NBS), but its role in A‐T is unclear.
Laila Alkhouli +3 more
wiley +1 more source
Dietary Protein Intake and Peritoneal Protein Losses in Peritoneal Dialysis Patients
ABSTRACT Introduction Peritoneal dialysis (PD) patients lose protein in their waste dialysate, potentially increasing their risk for malnutrition. We wished to determine whether there was any association between losses and dietary protein intake (DPI). Methods DPI was assessed from 24‐h dietary recall using Nutrics software.
Haalah Shaaker, Andrew Davenport
wiley +1 more source
Functional domain annotation by structural similarity
Abstract Traditional automated in silico functional annotation uses tools like Pfam that rely on sequence similarities for domain annotation. However, structural conservation often exceeds sequence conservation, suggesting an untapped potential for improved annotation through structural similarity. This approach was previously overlooked
Poorya Mirzavand Borujeni, Reza Salavati
openaire +2 more sources

