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The Mitochondrion

The mitochondrion is an organelle inside your cell responsible for energy production and cellular respiration. Each cell contains thousands of mitochondria. Each mitochondria has its own circular small genome that is 16,569 base pairs long. Mitochondria are inherited only from the mother, and thus polymorphisms on the mitochondria can trace back an individual’s maternal lineage. Each time there is a major branch point in the mitochondrial tree defined by a mutation, a new haplogroup is formed which can trace an individual’s ancestry. Each mitochondria is a descendant of a single mitochondria that was present some 200,000 - 500,000 years ago, referred to as the most recent common ancestor (MRCA) of the human mitochondria.

Mitochondrial haplogroups are named in no specific order (they are named in the order they were discovered) and here we only provide content for the highest level of classification. More detailed results and localization are possible using more detailed groups, but yours truly only had so long for content development this week.

Also, as a caveat to this data: we are calling mitochondrial haplogroups for people from off target reads. Off target read coverage is highly variable across samples, and some individuals will have more accurately inferred mtDNA groups than others. That means that we expect to get a few of the current panel based inferences wrong due to lack of coverage on the mtDNA. So far, the results line up with mtDNA calls that many of us have received from other testing companies. The launch of thin genome, however, means that each individual will have 20x or higher mtDNA coverage on average, giving us a confident call of the mitochondrial haplogroup for each sample.

Here we report the full mitochondrial haplogroup for each person and a confidence score associated with that. We only change the content based on the high level haplogroup (first letter) but this could be expanded. Confidence scores above 0.9 are good, below 0.9 is suspect (but its ideas so it is still there!). Have fun!