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How data science can make your genome actionable

Talkat Collision 2017 · 2017-05-02..05-04· [machine-learning]
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slides:none on file

Company Freenome shows data pipelines that transform whole‑genome reads into image‑like representations and train neural nets to classify cancer vs non‑cancer with features drawn from TCGA‑style nucleotide strings, and to classify early vs late stage disease. They report preliminary classifiers across ovarian, breast, lung, prostate and colorectal cancer, a case study where a patient’s molecular age jumps with a 2011 mutation and genomic instability peaks on circos plots as disease progresses. Google’s variant‑calling work is cited as a parallel success.

AI-written summary · about

  1. 0:00Intro
  2. 2:14The challenge
  3. 5:28Questions to ask
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