A bioinformatics pipeline for estimating mitochondrial DNA copy number and heteroplasmy levels from whole genome sequencing data

Keyphrases

• Whole-genome Sequence Data 100%
• Bioinformatics pipeline 100%
• Heteroplasmy 100%
• Mitochondrial DNA 100%
• Mitochondrial DNA Copy number 100%
• DNA Molecule 40%
• Copy number 20%
• Cell number 20%
• Genetic Variation 20%
• Mitochondrial Dysfunction 20%
• Human Disease 20%
• Accurate Identification 20%
• Heterogeneous Groups 20%
• Mitochondrial Function 20%
• Relative Amount 20%
• Nuclear Genome 20%
• Homopolymer 20%
• Variant Annotation 20%
• Remapping 20%
• Mitochondrial Genetics 20%
• Mitochondrial DNA Variation 20%
• Mitochondrial Sequences 20%
• Mitochondrial Disease 20%
• D-loop 20%
• Mitochondrial Variants 20%
• Existing pipeline 20%
• Uniform Coverage 20%
• Human Mortality 20%
• Homoplasmy 20%

Biochemistry, Genetics and Molecular Biology

• Whole Genome Sequencing 100%
• Gene Dosage 100%
• Heteroplasmy 100%
• Mitochondrial DNA 100%
• Mitochondrial Genome 40%
• Genetic Variation 20%
• Mitochondrial Disease 20%
• Mitochondrial Genetics 20%
• D-Loop 20%
• Homoplasmy 20%