Estimated Filtration: The Continued Need for Expert Classification of Genetic Variants

2018 ◽  
Vol 170 (1) ◽  
pp. 64
Author(s):  
Jason L. Vassy
Keyword(s):  
Genetic Variants ◽  
Expert Classification

Rapid detection and initial characterization of genetic variants of human serum albumin

1991 ◽  
Vol 37 (7) ◽  
pp. 1221-1224 ◽  
Author(s):  
J Merle Sheat ◽  
Robert J Peach ◽  
Peter M George
Keyword(s):  
Human Serum Albumin ◽  
Serum Albumin ◽  
Human Serum ◽  
Genetic Variants ◽  
Gel Electrophoresis ◽  
Structural Changes ◽  
Polyacrylamide Gel Electrophoresis ◽  
Sodium Dodecyl

Abstract We have studied the detection and classification of genetic variants of human serum albumin by electrophoresis. Samples from 10 patients who were heterozygous for eight different albumin variants were studied by two methods. In agarose gel electrophoresis, each of these variants has an abnormal mobility and can be classified on the basis that structural changes at the N-terminus abolish 63Ni binding. In sodium dodecyl sulfate-polyacrylamide gel electrophoresis of whole serum, glycosylated variants are easily detected because of their greater apparent molecular mass.

scholarly journals Automatic and Probabilistic Foehn Diagnosis with a Statistical Mixture Model

2014 ◽  
Vol 53 (3) ◽  
pp. 652-659 ◽  
Author(s):  
David Plavcan ◽  
Georg J. Mayr ◽  
Achim Zeileis
Keyword(s):  
Mixture Model ◽  
Potential Temperature ◽  
Statistical Mixture ◽  
Downslope Winds ◽  
Measured Time ◽  
Objective Classification ◽  
One Year ◽  
Expert Classification ◽  
Statistical Mixture Model

AbstractDiagnosing foehn winds from weather station data downwind of topographic obstacles requires distinguishing them from other downslope winds, particularly nocturnal ones driven by radiative cooling. An automatic classification scheme to obtain reproducible results that include information about the (un)certainty of the diagnosis is presented. A statistical mixture model separates foehn and no-foehn winds in a measured time series of wind. In addition to wind speed and direction, it accommodates other physically meaningful classifiers such as the (potential) temperature difference to an upwind station (e.g., near the crest) or relative humidity. The algorithm was tested for Wipp Valley in the central Alps against human expert classification and a previous objective method (Drechsel and Mayr 2008), which the new method outperforms. Climatologically, using only wind information gives nearly identical foehn frequencies as when using additional covariables. A data record length of at least one year is required for satisfactory results. The suitability of mixture models for objective classification of foehn at other locations will have to be tested in further studies.

scholarly journals Impact of spectrograms on the classification of wheezes and crackles in an educational setting. An interrater study

2019 ◽  
Author(s):  
JC. Aviles-Solis ◽  
I Storvoll ◽  
Vanbelle Sophie ◽  
H. Melbye
Keyword(s):  
Positive Impact ◽  
Random Order ◽  
The Arctic ◽  
Educational Setting ◽  
Lung Sounds ◽  
Online Questionnaire ◽  
Chest Auscultation ◽  
Technological Developments ◽  
Expert Classification

AbstractBackgroundChest auscultation is a widely used method in the diagnosis of lung diseases. However, the interpretation of lung sounds is a subjective task and disagreements arise. New technological developments like the use of visual representation of sounds through spectrograms could improve the agreement when classifying lung sounds, but this is not yet known.AimsTo test if the use of spectrograms improves the agreement when classifying wheezes and crackles.MethodsWe used 30 lung sounds recordings. The sample contained 15 normal recordings and 15 with wheezes or crackles. We produced spectrograms of the recordings. Twenty-three third to fifth-year medical students at UiT the Arctic University of Norway classified the recordings using an online questionnaire. We first showed the students examples of how wheezes and crackles looked in the spectrogram. Then, we played the recordings in a random order two times, first without the spectrogram, then with live spectrograms displayed. We asked them to classify the sounds for the presence of wheezes and crackles. We calculated kappa values for the agreement between each student and the expert classification with and without display of spectrograms and tested for significant improvement. We also calculated Fleiss kappa for the 23 observers with and without the spectrogram.ResultsWhen classifying wheezes 13/23 (1 with p<.05) students had a positive change in k, and 16/23 (2 with p<.05). All the statistically significant changes were in the direction of improved kappa values (.52 - .75). Fleiss kappa values were k=.51 and k=.56 (p=.63) for wheezes without and with spectrograms. For crackles, these values were k=.22 and k=.40 (p=<0.01) in the same order.ConclusionsThe use of spectrograms had a positive impact on the inter-rater agreement and the agreement with experts. We observed a higher improvement in the classification of crackles compared to wheezes.

scholarly journals Development and Validation of a Test for the Classification of Horses as Broken or Unbroken

Animals ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. 2303
Author(s):  
Laura Menchetti ◽  
Emanuela Dalla Costa ◽  
Michela Minero ◽  
Barbara Padalino
Keyword(s):  
Intraclass Correlation ◽  
Correlation Coefficients ◽  
Perfect Agreement ◽  
Intraclass Correlation Coefficients ◽  
Behavioural Test ◽  
Trained Observers ◽  
Test Retest Reliability ◽  
Development And Validation ◽  
Expert Classification

Regulation EC 1/2005 has stricter rules for transportation of unbroken (untamed) vs. broken (tamed) horses, but does not provide adequate tools for their identification. This study aimed to develop and validate such a tool. A behavioural test (Broken/Unbroken Test (BUT)) based on approaching, haltering, and leading was applied to 100 horses. Physiological and additional behavioural data were also collected, and the horses’ status (broken/unbroken) was assessed by the expert who administered the BUT. Each horse’s behaviour during the BUT was scored by four trained observers blinded to the horse’s history. The BUT score showed excellent inter-observer, intra-observer, and test–retest reliability (all intraclass correlation coefficients (ICCs) > 0.75). It was also negatively associated with respiratory rate, avoidance distance, and time needed to approach, halter, and lead the horse (p < 0.05 for all). The optimal BUT score cut-off for discrimination between broken and unbroken horses (gold standard: expert judgment) showed 97.8% sensitivity and 97.3% specificity. There was almost perfect agreement between BUT-based and expert classification of horses (ICC = 0.940). These findings confirm the BUT’s construct and criterion validity. The BUT could provide officials with a feasible, reliable, and valid tool to identify a horse’s broken/unbroken status and, consequently, direct stakeholders towards correct transport procedures.

The interpretation of somatic genetic variants identified with high-throughput sequencing of DNA from paediatric solid tumors

2021 ◽  
pp. 3-25
Author(s):  
М.А. Спектор ◽  
Л.А. Ясько ◽  
А.Е. Друй
Keyword(s):  
Solid Tumors ◽  
High Throughput ◽  
Genetic Variants ◽  
High Throughput Sequencing ◽  
Genetic Research ◽  
The United States ◽  
Sequencing Analysis ◽  
Clinical Implementation ◽  
American Society

Активное внедрение высокопроизводительного секвенирования в клиническую практику требует общего подхода к интерпретации обнаруженных генетических вариантов, в частности, вариантов с соматическим статусом. В 2017 году Ассоциация молекулярной патологии США (AMP), Американская коллегия медицинской генетики и геномики (ACMG), Американское общество клинической онкологии (ASCO) и Коллегия американских патологов (CAP) опубликовали руководство по интерпретации соматических генетических вариантов и выдаче заключений по результатам высокопроизводительного секвенирования опухолевой ДНК. Данный обзор посвящен специфике применения руководства AMP/ACMG/ASCO/CAP для интерпретации результатов генетических исследований детских солидных опухолей. В статье приводятся критерии, на которых основана классификация соматических генетических вариантов, обсуждаются проблемы оценки клинической значимости генетических находок и приводятся примеры классификации генетических вариантов, выявленных в различных типах детских солидных опухолей. Active clinical implementation of high-throughput DNA sequencing requires a common approach to the interpretation of detected genetic variants, including variants with somatic status. In 2017, the United States Association of Molecular Pathology (AMP), the American College of Medical Genetics and Genomics (ACMG), the American Society of Clinical Oncology (ASCO), and the College of American Pathologists (CAP) published the guidelines for interpreting and reporting the somatic genetic variants in cancer identified using high-throughput sequencing analysis. This review focuses on the specific application of the AMP/ACMG/ASCO/CAP guidelines in the field of genetic research on paediatric solid tumors. In particular, the review provides the criteria for classification of somatic genetic variants, discusses the problems of evaluating the clinical significance of genetic findings in paediatric tumors, and provides examples of classification of genetic variants specific for certain types of childhood solid malignancies.

Isoelectric focusing in agarose: classification of genetic variants of alpha 1-antitrypsin.

1983 ◽  
Vol 29 (2) ◽  
pp. 328-331 ◽  
Author(s):  
G J Buffone ◽  
B J Stennis ◽  
C M Schimbor
Keyword(s):  
High Resolution ◽  
Isoelectric Focusing ◽  
Genetic Variants ◽  
Virtual Absence ◽  
Agarose Gels ◽  
Limited Success ◽  
The Matrix ◽  
Alpha 1 Antitrypsin

Abstract Polyacrylamide has been the matrix of choice for isoelectric focusing owing to the virtual absence of electroendosmosis in this medium. Certain inherent limitations associated with polyacrylamide have prompted some investigators to use low-electroendosmosis agarose for isoelectric focusing, but with limited success thus far. We have developed a method for isoelectric focusing in agarose for the classification of alpha 1-antitrypsin variants. Sera are applied directly to agarose gels containing a pH 4-5 ampholyte mixture, focused for less than 1 h, and directly immunofixed. Resolution of major bands is equivalent to polyacrylamide, and Pi M subtypes can be distinguished without the use of a separator. This application demonstrates the high resolution of isoelectric focusing in agarose, a more practical and convenient matrix than polyacrylamide.

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