Population genetic study of repetitive DNA regions reveals new biological mechanisms in the general population and uncovers harmful mutations associated with Autism

By Ileena Mitra

Scientific illustration of a spontaneous tandem repeat mutation of +2 repeats in a child.
CDC estimates 1 in 68 children has been identified with autism spectrum disorder.
Graph illustrating a tandem repeat mutation of -2 repeats in a child (1).
Graph illustrating the average size of tandem repeat mutations from fathers versus mothers (1).
Graph illustrating the expression of genes affected by tandem repeat mutations in autistic versus healthy children (1).
Graph illustrating the distribution of tandem repeat mutations in autistic versus healthy children (1).
  1. P.F. Sullivan and D.H. Geschwind. Cell (2019).

Bioinformatics PhD candidate @ UC San Diego.

Get the Medium app

A button that says 'Download on the App Store', and if clicked it will lead you to the iOS App store
A button that says 'Get it on, Google Play', and if clicked it will lead you to the Google Play store