Comparison of whole mitochondrial genome variants between hair shafts and reference samples using massively parallel sequencing

2019 ◽  
Vol 134 (3) ◽  
pp. 853-861
Author(s):  
Bo Min Kim ◽  
Sae Rom Hong ◽  
Hein Chun ◽  
Sangwoo Kim ◽  
Kyoung-Jin Shin
Keyword(s):  
Mitochondrial Genome ◽  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Parallel Sequencing ◽  
Hair Shafts ◽  
Reference Samples ◽  
Genome Variants

scholarly journals Underlying Data for Sequencing the Mitochondrial Genome with the Massively Parallel Sequencing Platform Ion Torrent™ PGM™

BMC Genomics ◽  
2015 ◽  
Vol 16 (Suppl 1) ◽  
pp. S4 ◽  
Author(s):  
Seung Bum Seo ◽  
Xiangpei Zeng ◽  
Jonathan L King ◽  
Bobby L Larue ◽  
Mourad Assidi ◽  
...  
Keyword(s):  
Mitochondrial Genome ◽  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Ion Torrent ◽  
Parallel Sequencing ◽  
Sequencing Platform

scholarly journals High throughput whole mitochondrial genome sequencing by two platforms of massively parallel sequencing

BMC Genomics ◽  
2014 ◽  
Vol 15 (Suppl 2) ◽  
pp. P7 ◽  
Author(s):  
Seung Seo ◽  
Xiangpei Zeng ◽  
Mourad Assidi ◽  
Bobby LaRue ◽  
Jonathan King ◽  
...  
Keyword(s):  
Mitochondrial Genome ◽  
Genome Sequencing ◽  
High Throughput ◽  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Parallel Sequencing

scholarly journals Recovery of whole mitochondrial genome from compromised samples via multiplex PCR and massively parallel sequencing

2018 ◽  
Vol 4 (9) ◽  
pp. FSO336 ◽  
Author(s):  
Maureen P Hickman ◽  
Kelly S Grisedale ◽  
Brittania J Bintz ◽  
Erin S Burnside ◽  
Erin K Hanson ◽  
...  
Keyword(s):  
Mitochondrial Genome ◽  
Multiplex Pcr ◽  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Parallel Sequencing

High-quality and high-throughput massively parallel sequencing of the human mitochondrial genome using the Illumina MiSeq

2014 ◽  
Vol 12 ◽  
pp. 128-135 ◽  
Author(s):  
Jonathan L. King ◽  
Bobby L. LaRue ◽  
Nicole M. Novroski ◽  
Monika Stoljarova ◽  
Seung Bum Seo ◽  
...  
Keyword(s):  
Mitochondrial Genome ◽  
High Throughput ◽  
Massively Parallel Sequencing ◽  
Illumina Miseq ◽  
Massively Parallel ◽  
High Quality ◽  
Parallel Sequencing ◽  
Human Mitochondrial Genome

MitoDx: Massively parallel sequencing of the mitochondrial genome may diagnose mitochondrial disease without invasive biopsies

Mitochondrion ◽  
2011 ◽  
Vol 11 (4) ◽  
pp. 664
Author(s):  
Steve S. Sommer⁎ ◽  
Carolyn H. Buzin ◽  
William A. Scaringe ◽  
Hsin-Lung Lo ◽  
Charles E. Petersen
Keyword(s):  
Mitochondrial Genome ◽  
Mitochondrial Disease ◽  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Parallel Sequencing

Whole mitochondrial genome analysis of highland Tibetan ethnicity using massively parallel sequencing

2020 ◽  
Vol 44 ◽  
pp. 102197 ◽  
Author(s):  
Mengge Wang ◽  
Zheng Wang ◽  
Guanglin He ◽  
Shouyu Wang ◽  
Xing Zou ◽  
...  
Keyword(s):  
Mitochondrial Genome ◽  
Genome Analysis ◽  
Massively Parallel Sequencing ◽  
Massively Parallel ◽  
Parallel Sequencing

scholarly journals Comprehensive One-Step Molecular Analyses of Mitochondrial Genome by Massively Parallel Sequencing

2012 ◽  
Vol 58 (9) ◽  
pp. 1322-1331 ◽  
Author(s):  
Wei Zhang ◽  
Hong Cui ◽  
Lee-Jun C Wong
Keyword(s):  
Mitochondrial Genome ◽  
Sensitivity And Specificity ◽  
Massively Parallel Sequencing ◽  
Point Mutations ◽  
Massively Parallel ◽  
Parallel Sequencing ◽  
Molecular Analyses ◽  
Mtdna Mutations ◽  
Large Deletions ◽  
Detection And Quantification

Abstract BACKGROUND Mitochondrial diseases are clinically and genetically heterogeneous, with variable penetrance, expressivity, and differing age of onset. Disease-causing point mutations and large deletions in the mitochondrial genome often exist in a heteroplasmic state. Current molecular analyses require multiple different and complementary methods for the detection and quantification of mitochondrial DNA (mtDNA) mutations. We developed a novel approach to analyze the mtDNA in 1 step. METHODS The entire human mitochondrial genome was enriched by a single amplicon long-range PCR followed by massively parallel sequencing to simultaneously detect mtDNA point mutations and large deletions with heteroplasmic levels of the mutations and variants quantified. QC samples were designed and analyzed along with each sample. A total of 45 samples were analyzed for the evaluation of analytic sensitivity and specificity. RESULTS Our analysis demonstrated 100% diagnostic sensitivity and specificity of base calls compared to the results from Sanger sequencing. The deep coverage allowed the detection and quantification of heteroplasmy at every single nucleotide position of the 16 569-bp mitochondrial genome. Moreover, the method also detected large deletions with the breakpoints mapped. CONCLUSIONS This “deep” sequencing approach provides a 1-step comprehensive molecular analysis of the whole mitochondrial genome for patients in whom a mitochondrial disease is suspected.

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