The DNA Integrity Number: A novel approach for objective integrity classification of genomic DNA samples

2016 ◽  
Author(s):  
Rainer Nitsche
Keyword(s):  
Genomic Dna ◽  
Dna Integrity ◽  
Novel Approach

scholarly journals Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data

2021 ◽  
Author(s):  
David Lewis-Smith ◽  
Shiva Ganesan ◽  
Peter D. Galer ◽  
Katherine L. Helbig ◽  
Sarah E. McKeown ◽  
...  
Keyword(s):  
Clinical Data ◽  
Similarity Analysis ◽  
Genetic Studies ◽  
Human Phenotype ◽  
Phenotypic Similarity ◽  
Complex Phenotypes ◽  
Cognitive Framework ◽  
Novel Approach ◽  
Genetic Epilepsies

AbstractWhile genetic studies of epilepsies can be performed in thousands of individuals, phenotyping remains a manual, non-scalable task. A particular challenge is capturing the evolution of complex phenotypes with age. Here, we present a novel approach, applying phenotypic similarity analysis to a total of 3251 patient-years of longitudinal electronic medical record data from a previously reported cohort of 658 individuals with genetic epilepsies. After mapping clinical data to the Human Phenotype Ontology, we determined the phenotypic similarity of individuals sharing each genetic etiology within each 3-month age interval from birth up to a maximum age of 25 years. 140 of 600 (23%) of all 27 genes and 3-month age intervals with sufficient data for calculation of phenotypic similarity were significantly higher than expect by chance. 11 of 27 genetic etiologies had significant overall phenotypic similarity trajectories. These do not simply reflect strong statistical associations with single phenotypic features but appear to emerge from complex clinical constellations of features that may not be strongly associated individually. As an attempt to reconstruct the cognitive framework of syndrome recognition in clinical practice, longitudinal phenotypic similarity analysis extends the traditional phenotyping approach by utilizing data from electronic medical records at a scale that is far beyond the capabilities of manual phenotyping. Delineation of how the phenotypic homogeneity of genetic epilepsies varies with age could improve the phenotypic classification of these disorders, the accuracy of prognostic counseling, and by providing historical control data, the design and interpretation of precision clinical trials in rare diseases.

A Novel Approach for Classification of E-Commerce Data

2015 ◽  
Author(s):  
K. Chaitanya ◽  
D. V. L. N. Somayajulu ◽  
P. Radha Krishna
Keyword(s):  
Novel Approach

scholarly journals A novel approach to the classification of terrestrial drainage networks based on deep learning and preliminary results on solar system bodies

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Carlo Donadio ◽  
Massimo Brescia ◽  
Alessia Riccardo ◽  
Giuseppe Angora ◽  
Michele Delli Veneri ◽  
...  
Keyword(s):  
Deep Learning ◽  
Morphological Variations ◽  
Control Factors ◽  
Novel Approach ◽  
Drainage Networks ◽  
Key Characteristics ◽  
Intrinsic Complexity ◽  
Solar System Bodies ◽  
Manual Extraction

AbstractSeveral approaches were proposed to describe the geomorphology of drainage networks and the abiotic/biotic factors determining their morphology. There is an intrinsic complexity of the explicit qualification of the morphological variations in response to various types of control factors and the difficulty of expressing the cause-effect links. Traditional methods of drainage network classification are based on the manual extraction of key characteristics, then applied as pattern recognition schemes. These approaches, however, have low predictive and uniform ability. We present a different approach, based on the data-driven supervised learning by images, extended also to extraterrestrial cases. With deep learning models, the extraction and classification phase is integrated within a more objective, analytical, and automatic framework. Despite the initial difficulties, due to the small number of training images available, and the similarity between the different shapes of the drainage samples, we obtained successful results, concluding that deep learning is a valid way for data exploration in geomorphology and related fields.

Advances in the Biology and Genetics of the Podocytopathies: Implications for Diagnosis and Therapy

2009 ◽  
Vol 133 (2) ◽  
pp. 201-216 ◽  
Author(s):  
Laura Barisoni ◽  
H. William Schnaper ◽  
Jeffrey B. Kopp
Keyword(s):  
Current Knowledge ◽  
Diffuse Mesangial Sclerosis ◽  
Therapeutic Approaches ◽  
Glomerular Diseases ◽  
Podocyte Injury ◽  
Collapsing Glomerulopathy ◽  
Novel Approach ◽  
Genes Encoding ◽  
Glomerular Morphology

AbstractContext.—Etiologic factors and pathways leading to altered podocyte phenotype are clearly numerous and involve the activity of different cellular function.Objective.—To focus on recent discoveries in podocyte biology and genetics and their relevance to these human glomerular diseases, named podocytopathies.Data Sources.—Genetic mutations in genes encoding for proteins in the nucleus, slit diaphragm, podocyte cytoplasm, and cell membrane are responsible for podocyte phenotype and functional abnormalities. Podocyte injury may also derive from secondary stimuli, such as mechanical stress, infections, or use of certain medications. Podocytes can respond to injury in a limited number of ways, which include (1) effacement, (2) apoptosis, (3) arrest of development, and (4) dedifferentiation. Each of these pathways results in a specific glomerular morphology: minimal change nephropathy, focal segmental glomerulosclerosis, diffuse mesangial sclerosis, and collapsing glomerulopathy.Conclusions.—Based on current knowledge of podocyte biology, we organized etiologic factors and morphologic features in a taxonomy of podocytopathies, which provides a novel approach to the classification of these diseases. Current and experimental therapeutic approaches are also discussed.

scholarly journals Psychroserpens Luteus Sp. Nov., Isolated fFrom Red Algae

2021 ◽  
Author(s):  
Xiu-Ya Ping ◽  
Kai Wang ◽  
Jin-Yu Zhang ◽  
Shu-Xin Wang ◽  
Zong-Jun Du ◽  
...  
Keyword(s):  
Red Algae ◽  
Genomic Dna ◽  
Type Strain ◽  
Novel Species ◽  
Sequence Similarity ◽  
Rrna Gene ◽  
Gram Stain ◽  
Optimum Ph ◽  
The 16S Rrna Gene

Abstract A Gram-stain-negative, gliding-motile, positive for catalase, facultative anaerobic, designated strain XSD401T, was isolated from the red algae of Xiaoshi Island, Shandong Province, China. Growth occurred at 20–37 °C (optimum, 33 °C), pH 5.5–9.5 (optimum, pH 6.5–7.5), and with 0.5–5% (w/v) NaCl (optimum, 3%). The main fatty acids are iso-C15:0, iso-C15:1 G, iso-C17:0 3-OH, iso-C15:0 3-OH, C16:0. Phosphatidylethanolamine (PE), three unidentified aminolipids (AL1, AL2, AL3) and one unidentified lipid (L) were the major polar lipids. The G+C content of the genomic DNA was 33.9 mol%. Strain XSD401T had the highest sequence similarity (96.88%) to the 16S rRNA gene of Psychroserpens damuponensis KCTC 23539T. The similarities with Psychroserpens burtonensis DSM 12212T was 96.31%. The dDDH values between strain XSD401T and P. damuponensis KCTC 23539T, P. burtonensis DSM 12212T, were 20.40% and 20.30%, respectively. The average nucleotide identity (ANI) values between strain XSD401T and P. damuponensis KCTC 23539T, P. burtonensis DSM 12212T were 76.91%, 76.88%, respectively. The differences in morphology, physiology and genotype from the previously described taxa support the classification of strain XSD401T as a representative of a novel species of the genus Psychroserpens, for which the name Psychroserpens luteus sp. nov. is proposed. The type strain is XSD401T (= MCCC 1H00396T = KCTC 72684T = JCM 33931T).

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