Keyphrases
Clinical Application
100%
Mitochondrial DNA
100%
Mitochondrial DNA Variation
100%
Variant Caller
100%
Heteroplasmy
66%
Caller
50%
Whole-genome Sequence Data
50%
Variant Calling
50%
Homoplasmic
50%
Human Disease
16%
Publicly Available
16%
Mitochondria
16%
Penetrant
16%
Monogenic
16%
Copy number
16%
Whole Genome Sequencing
16%
Variant Detection
16%
Pathogenicity
16%
Mitochondrial DNA mutation
16%
DNA Data
16%
DNA nucleotides
16%
Result Prediction
16%
Benchmark Dataset
16%
Concordance Rate
16%
Maternally Inherited
16%
Allelic Variation
16%
DNA Copy
16%
Multiple Alternatives
16%
Population Frequency
16%
Frequency Database
16%
Synthetic Benchmarks
16%
Gold Standard Dataset
16%
Calling Algorithm
16%
Inherited Variants
16%
Pathogenicity Prediction
16%
Variant Annotation
16%
Genome Analysis Toolkit
16%
Pathogenicity Predictors
16%
Homoplasmy
16%
Biochemistry, Genetics and Molecular Biology
Mitochondrial DNA
100%
Whole Genome Sequencing
30%
Heteroplasmy
15%
DNA Mutation
7%
Allele
7%
Mitochondrion
7%
Homoplasmy
7%