Back

A Quantitative Look at Mitochondrial DNA in Genealogy

Spencer, R. W.

2025-02-24 scientific communication and education
10.1101/2025.02.19.638439 bioRxiv
Show abstract

Mutations occur throughout the 16,569 basepair human mitochondrial genome and most are under strong purifying selection. Archaeologically and genealogically useful mutations, in contrast, are neutral and remain stable for centuries. In new results, multiple lines of evidence show that the latter appear on average every 2900 years and the effective genealogical chromosome is limited to about 4800 basepairs, 28% of its physical length. These mutations are already three-fold oversampled in the haplotree; all those in protein-coding genes are translationally synonymous. This evidence offers a limited prospect that additional testing can significantly increase the branching or temporal resolution of the haplotree.

Matching journals

The top 3 journals account for 50% of the predicted probability mass.

50% of probability mass above

"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.