Classification of albumin and proalbumin genetic variants

1985 ◽  
Vol 15 (2) ◽  
Author(s):  
Keyword(s):  
Genetic Variants

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.

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.

Changes in classification of genetic variants in BRCA1 and BRCA2

2018 ◽  
Vol 297 (2) ◽  
pp. 279-280 ◽  
Author(s):  
Karin Kast ◽  
Pauline Wimberger ◽  
Norbert Arnold
Keyword(s):  
Genetic Variants ◽  
Brca1 And Brca2

scholarly journals MET Exon 14 Skipping: A Case Study for the Detection of Genetic Variants in Cancer Driver Genes by Deep Learning

2021 ◽  
Author(s):  
Vladimir Nosi ◽  
Alessandrì Luca ◽  
Melissa Milan ◽  
Maddalena Arigoni ◽  
Silvia Benvenuti ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Detection Rate ◽  
Exon Skipping ◽  
Small Cell ◽  
Small Cell Lung ◽  
Driver Genes ◽  
Cancer Driver ◽  
Rnaseq Data

Background: Disruption of alternative splicing (AS) is frequently observed in cancer and it might represent an important signature for tumor progression and therapy. Exon skipping (ES) represents one of the most frequent AS events and in non-small cell lung cancer (NSCLC) MET exon 14 skipping was shown to be targetable. Methods: We constructed a neural network (NN) specifically designed to detect MET exon 14 skipping events using RNAseq data. Furthermore, for discovery purpose we also developed a sparsely connected autoencoder to identify uncharacterized MET isoforms. Results: The NN had 100% Met exon 14 skipping detection rate, when tested on a manually curated set of 690 TCGA bronchus and lung samples. When globally applied to 2605 TCGA samples, we observed that the majority of false positives was characterized by a blurry coverage of exon 14, but interesting they share a common coverage peak in the second intron and we speculate that this event could be the transcription signature of a LINE1-MET fusion. Conclusions: Taken together our results indicate that neural networks can be an effective tool to provide a quick classification of pathological transcription events and sparsely connected autoencoders could represent the basis for the development of an effective discovery tool.

Classification of genetic variants in hereditary cancer genes

2021 ◽  
pp. 349-387
Author(s):  
Lidia Feliubadaló ◽  
Michael T. Parsons ◽  
Marta Pineda ◽  
Emma Tudini
Keyword(s):  
Hereditary Cancer ◽  
Genetic Variants ◽  
Cancer Genes
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