scholarly journals Sequence Fusion Algorithm of Tumor Gene Sequencing and Alignment Based on Machine Learning

2021 ◽  
Vol 2021 ◽  
pp. 1-17
Author(s):  
Chao Tang ◽  
Ling Luo ◽  
Yu Xu ◽  
Guobin Chen ◽  
Li Tang ◽  
...  

With the rapid development of DNA high-throughput testing technology, there is a high correlation between DNA sequence variation and human diseases, and detecting whether there is variation in DNA sequence has become a hot research topic at present. DNA sequence variation is relatively rare, and the establishment of DNA sequence sparse matrix, which can quickly detect and reason fusion variation point, has become an important work of tumor gene testing. Because there are differences between the current comparison software and mutation detection software in detecting the same sample, there are errors between the results of derivative sequence comparison and the detection of mutation. In this paper, SNP and InDel detection methods based on machine learning and sparse matrix detection are proposed, and VarScan 2, Genome Analysis Toolkit (GATK), BCFtools, and FreeBayes are compared. In the research of SNP and InDel detection with intelligent reasoning, the experimental results show that the detection accuracy and recall rate are better when the depth is increasing. The reasoning fusion method proposed in this paper has certain advantages in comparison effect and discovery in SNP and InDel and has good effect on swelling and pain gene detection.

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Bertanne Visser ◽  
Hans T. Alborn ◽  
Suzon Rondeaux ◽  
Manon Haillot ◽  
Thierry Hance ◽  
...  

AbstractNumerous cases of evolutionary trait loss and regain have been reported over the years. Here, we argue that such reverse evolution can also become apparent when trait expression is plastic in response to the environment. We tested this idea for the loss and regain of fat synthesis in parasitic wasps. We first show experimentally that the wasp Leptopilina heterotoma switches lipogenesis on in a fat-poor environment, and completely off in a fat-rich environment. Plasticity suggests that this species did not regain fat synthesis, but that it can be switched off in some environmental settings. We then compared DNA sequence variation and protein domains of several more distantly related parasitoid species thought to have lost lipogenesis, and found no evidence for non-functionality of key lipogenesis genes. This suggests that other parasitoids may also show plasticity of fat synthesis. Last, we used individual-based simulations to show that a switch for plastic expression can remain functional in the genome for thousands of generations, even if it is only used sporadically. The evolution of plasticity could thus also explain other examples of apparent reverse evolution.


2006 ◽  
Vol 34 (18) ◽  
pp. e121-e121 ◽  
Author(s):  
C. H. Cannon ◽  
C. S. Kua ◽  
E. K. Lobenhofer ◽  
P. Hurban

Recent advances in nucleic acid technology have facilitated the detection and detailed structural analysis of a wide variety of genes in higher organisms, including those in man. This in turn has opened the way to an examination of the evolution of structural genes and their surrounding and intervening sequences. In a study of the evolution of haemoglobin genes and neighbouring sequences in man and the primates, we have investigated gene arrangement and DNA sequence divergence both within and between species ranging from Old World monkeys to man. This analysis is beginning to reveal the evolutionary constraints that have acted on this region of the genome during primate evolution. Furthermore, DNA sequence variation, both within and between species, provides, in principle, a novel and powerful method for determining inter-specific phylogenetic distances and also for analysing the structure of present-day human populations. Application of this new branch of molecular biology to other areas of the human genome should prove important in unravelling the history of genetic changes that have occurred during the evolution of man.


Author(s):  
A. Apolloni ◽  
R. Stumm ◽  
S. Burrows ◽  
D. J. Moss ◽  
I. S. Misko ◽  
...  

2018 ◽  
Vol 43 (3) ◽  
pp. 664-675 ◽  
Author(s):  
Matt Lavin ◽  
R. Toby Pennington ◽  
Colin E. Hughes ◽  
Gwilym P. Lewis ◽  
Alfonso Delgado-Salinas ◽  
...  

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