Results 51 to 60 of about 339,629 (251)

Functional Annotation Analytics of Genomes

Bioinformatics and Biology Insights, 2011
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, Raphael D. Isokpehi, Shyretha D. Brown, Donee L. Mcallister, Charnia C. Hall, Wanaki M. Mcduffy, Tamara L. Medley, Udensi K. Udensi, Rajendram V. Rajnarayanan, Wellington K. Ayensu, Hari H.P. Cohly   +10 more
doaj   +1 more source

Clinically Relevant Functional Annotation of Genotype [PDF]

Circulation: Cardiovascular Genetics, 2014
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

Prevalence of 21 Physician‐Defined Severe Toxicities Following Childhood Acute Lymphoblastic Leukemia Treatment: Australian Retrospective Cohort Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer, with an overall survival now surpassing 90% in developed countries. However, treatments are not without adverse effects. In this study, we apply the severe toxicity‐free survival (STFS) framework to determine the prevalence of 21 physician‐defined severe ...
Lane Collier, Brittany Grantham, Camilla Grud Nielsen, Louise Lundgren, Liv Andrés‐Jensen, Kjeld Schmiegelow, Chris Selman, Gareth Ball, Elyse Passmore, David A. Elliott, Rachel Conyers   +10 more
wiley   +1 more source

Sustained Therapeutic Efficacy of Intravenous Plasminogen Concentrate in Pediatric Patients With Type 1 Plasminogen Deficiency: An Analysis of Dosing Parameters and Clinical Outcomes

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Type 1 plasminogen deficiency (PLGD‐1) is an ultra‐rare autosomal recessive disorder caused by variants in the PLG gene and affects approximately 1.6 individuals per million. The condition is characterized by decreased plasminogen levels and impaired function, resulting in fibrin‐rich lesions on mucous membranes throughout the body.
Charles Nakar, Karen Thibaudeau, Mary Mathias, Heather McDaniel, Madlen Reschke, Klaus Tenbrock, Joseph M. Parker, Amy Shapiro   +7 more
wiley   +1 more source

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall, Emma N. Harrison, Genevieve C. Kendall   +2 more
wiley   +1 more source

The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo, Miriam A. Bornhorst, Angela J. Waanders, Sara Zarnegar‐Lumley, Ashwin Lakshman Koppayi, Lucy A. Godley   +5 more
wiley   +1 more source

Functional Annotation and Analysis of Genetic Variants

IEEE Access, 2023
The process of functional annotation of human genetic variants is important for some significant biomedical tasks like understanding functional genomics and gene-disease associations.
Emad S. Abouel Nasr, H. Al-Mubaid
doaj   +1 more source

EuCAP, a Eukaryotic Community Annotation Package, and its application to the rice genome

BMC Genomics, 2007
Background Despite the improvements of tools for automated annotation of genome sequences, manual curation at the structural and functional level can provide an increased level of refinement to genome annotation.
Hamilton John P, Campbell Matthew, Thibaud-Nissen Françoise, Zhu Wei, Buell C   +4 more
doaj   +1 more source

Health Literacy, Self‐Efficacy and Knowledge of Sickle Cell Disease Among Caregivers

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Sickle cell disease (SCD) is a hereditary blood disorder in which abnormal haemoglobin leads to severe anaemia, painful crises and organ failure. Caregivers’ health literacy (HL) – their ability to assess, understand and apply information, and interact with healthcare professionals – is crucial for managing children with SCD, yet ...
Melanie Bruinooge, Maite E. Houwing, Rowena L. Grohssteiner, Ferdows Atiq, Sonja A. M. C. Teuben, Mirjam P. Fransen, Marjon H. Cnossen   +6 more
wiley   +1 more source

Fungal genomes: suffering with functional annotation errors

IMA Fungus, 2021
Background The genome sequence data of more than 65985 species are publicly available as of October 2021 within the National Center for Biotechnology Information (NCBI) database alone and additional genome sequences are available in other databases and ...
Tapan Kumar Mohanta, Ahmed Al-Harrasi
doaj   +1 more source