Normal variants
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Part 1 book "Clinical imaging of spinal trauma - A case based approach" includes content: Normal variants and mimickers recommendations, pitfalls, and controversies - trauma to uncompromised spine (typically unstable, typically stable, soft tissue injuries).
101p zizaybay1101 30-04-2024 2 2 Download
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The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evidence codes PS3 and BS3 for “well-established” functional assays demonstrating a variant has abnormal or normal gene/protein function, respectively.
12p vibransone 28-03-2024 3 2 Download
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In this study we generated a whole exome sequencing benchmark dataset using the platinum genome sample NA12878 and developed an intersect-then-combine (ITC) approach to increase the accuracy in calling single nucleotide variants (SNVs) and indels in tumour-normal pairs. We evaluated the effect of alignment, base quality recalibration, mutation caller and filtering on sensitivity and false positive rate.
11p vioraclene 31-03-2024 4 2 Download
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A key step in cancer genome analysis is the identification of somatic mutations in the tumor. This is typically done by comparing the genome of the tumor to the reference genome sequence derived from a normal tissue taken from the same donor.
18p vioraclene 31-03-2024 2 1 Download
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Ebook Carsiac imaging – A core review: Part 1 includes content: Basics of imaging - radiography, CT, and MR; normal anatomy, including variants, encountered on radiography, CT, and MR; ischemic heart disease;…. And other contents. Invite you to consult the details.
154p longtimenosee03 01-02-2024 3 0 Download
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Zieve syndrome is a rare diagnosis seen in patients with chronic alcohol use which consists of a distinct clinical triad of hyperlipidemia, hemolytic anemia, and jaundice. Patients typically have an elevated reticulocyte count due to the hemolytic nature of the anemia.
6p viwhitewolf 03-07-2023 5 3 Download
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In rice, a variant of DEP1 gene results in erect panicle architecture, well-developed vascular bundles, an increase in the number of grains per panicle and a consequent increase in the grain yield.
10p vinarcissa 21-03-2023 1 1 Download
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This attack technique decreases the number of power traces for correctly recovering the secret key by approximately 13% in normal conditions and 60% in noisy conditions compared to a traditional CPA attack. Experiments were performed on power traces of AES-128 implemented in both microcontroller and FPGA by Sakura-G/W side channel evaluation board to verify the effectiveness of our method.
8p spiritedaway36 28-11-2021 20 3 Download
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The rat genome was sequenced in 2004 with the aim to improve human health altered by disease and environmental influences through gene discovery and animal model validation. Here, we report development and testing of a probe set for whole exome sequencing (WES) to detect sequence variants in exons and UTRs of the rat genome.
14p vibeauty 23-10-2021 10 1 Download
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Cell lines form the cornerstone of cell-based experimentation studies into understanding the underlying mechanisms of normal and disease biology including cancer. Therefore, a new and cost effective approach for authentication and quality control of cell lines is needed.
13p vigiselle2711 30-08-2021 12 1 Download
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Inheritance of the F variant of alpha-1-antitrypsin is associated with normal circulating protein levels, but it is believed to be dysfunctional in its ability to inhibit neutrophil elastase and therefore has been implicated as a susceptibility factor for the development of emphysema.
7p vimontana2711 05-04-2021 9 1 Download
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Hi-C and its variant techniques have been developed to capture the spatial organization of chromatin. Normalization of Hi-C contact map is essential for accurate modeling and interpretation of high-throughput chromatin conformation capture (3C) experiments.
25p vikentucky2711 24-11-2020 13 2 Download
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The nonparametric trend test (NPT) is well suitable for identifying the genetic variants associated with quantitative traits when the trait values do not satisfy the normal distribution assumption. If the genetic model, defined according to the mode of inheritance, is known, the NPT derived under the given genetic model is optimal. However, in practice, the genetic model is often unknown beforehand.
9p vioklahoma2711 19-11-2020 9 1 Download
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Next-generation sequencing of matched tumor and normal biopsy pairs has become a technology of paramount importance for precision cancer treatment. Sequencing costs have dropped tremendously, allowing the sequencing of the whole exome of tumors for just a fraction of the total treatment costs.
15p vioklahoma2711 19-11-2020 10 0 Download
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The advent of modern high-throughput genetics continually broadens the gap between the rising volume of sequencing data, and the tools required to process them. The need to pinpoint a small subset of functionally important variants has now shifted towards identifying the critical differences between normal variants and diseasecausing ones.
10p viconnecticut2711 28-10-2020 20 1 Download
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In standard high throughput sequencing analysis, genetic variants are not assigned to a homologous chromosome of origin. This process, called haplotype phasing, can reveal information important for understanding the relationship between genetic variants and biological phenotypes.
11p vijisoo2711 27-10-2020 11 1 Download
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There are over 25 tools dedicated for the detection of Copy Number Variants (CNVs) using Whole Exome Sequencing (WES) data based on read depth analysis. The tools reported consist of several steps, including: (i) calculation of read depth for each sequencing target, (ii) normalization, (iii) segmentation and (iv) actual CNV calling.
10p vijisoo2711 27-10-2020 9 0 Download
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Automated biomedical named entity recognition and normalization serves as the basis for many downstream applications in information management. However, this task is challenging due to name variations and entity ambiguity. A biomedical entity may have multiple variants and a variant could denote several different entity identifiers.
15p vicolorado2711 22-10-2020 19 0 Download
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Alternate transcripts from a single gene locus greatly enhance the combinatorial flexibility of the human transcriptome. Different patterns of exon usage have been observed when comparing normal tissue to cancers, suggesting that variant transcripts may play a role in the tumor phenotype.
13p viamsterdam 18-09-2020 11 1 Download
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Histone demethylase JARID1B plays several context dependent roles in epigenetic regulation of cellular differentiation in normal development and is highly expressed in multiple human cancers. The protein is a strong transcriptional repressor capable of downregulating numerous genes.
7p vibaku2711 22-07-2020 15 2 Download