Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease

2006 ◽  
Vol 1 (4) ◽  
pp. 2037-2047 ◽  
Author(s):  
Sylvie Bannwarth ◽  
Vincent Procaccio ◽  
Veronique Paquis-Flucklinger
Keyword(s):  
Mitochondrial Genome ◽  
Rapid Identification ◽  
Surveyor Nuclease ◽  
Human Mitochondrial Genome

Human mitochondrial genome surgery

2018 ◽  
Vol XIII (3) ◽  
Author(s):  
I.О. Маzunin
Keyword(s):  
Mitochondrial Genome ◽  
Human Mitochondrial Genome

scholarly journals Human mitochondrial genome compression using machine learning techniques

2019 ◽  
Vol 13 (S1) ◽  
Author(s):  
Rongjie Wang ◽  
Tianyi Zang ◽  
Yadong Wang
Keyword(s):  
Machine Learning ◽  
Mitochondrial Genome ◽  
Data Storage ◽  
Machine Learning Techniques ◽  
Compression Method ◽  
Genome Data ◽  
Sequencing Technologies ◽  
Learning Techniques ◽  
Single Genome ◽  
Human Mitochondrial Genome

Abstract Background In recent years, with the development of high-throughput genome sequencing technologies, a large amount of genome data has been generated, which has caused widespread concern about data storage and transmission costs. However, how to effectively compression genome sequences data remains an unsolved problem. Results In this paper, we propose a compression method using machine learning techniques (DeepDNA), for compressing human mitochondrial genome data. The experimental results show the effectiveness of our proposed method compared with other on the human mitochondrial genome data. Conclusions The compression method we proposed can be classified as non-reference based method, but the compression effect is comparable to that of reference based methods. Moreover, our method not only have a well compression results in the population genome with large redundancy, but also in the single genome with small redundancy. The codes of DeepDNA are available at https://github.com/rongjiewang/DeepDNA.

scholarly journals Transmission of the human mitochondrial genome

2000 ◽  
Vol 15 (suppl 2) ◽  
pp. 235-245 ◽  
Author(s):  
N. Howell ◽  
P.F. Chinnery ◽  
S.S. Ghosh ◽  
E. Fahy ◽  
D.M. Turnbull
Keyword(s):  
Mitochondrial Genome ◽  
Human Mitochondrial Genome

G.P.3.14 Comparative human mitochondrial genome analysis using the affymetrix Mitochip v2 and conventional cycle sequencing

2008 ◽  
Vol 18 (9-10) ◽  
pp. 755-756
Author(s):  
A.J. Duncan ◽  
M.G. Sweeney ◽  
E. Stern ◽  
R. Taylor ◽  
C. Woodward ◽  
...  
Keyword(s):  
Mitochondrial Genome ◽  
Genome Analysis ◽  
Cycle Sequencing ◽  
Human Mitochondrial Genome
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