Hunting Disease Origins By Whole-Genome Sequencing

ChocSnorfler writes "James Lupski, a physician-scientist who suffers from a neurological disorder called Charcot-Marie-Tooth, has been searching for the genetic cause of his disease for more than 25 years. Late last year, he finally found it — by sequencing his entire genome. While a number of human genome sequences have been published to date, Lupski's research is the first to show how whole-genome sequencing can be used to identify the genetic cause of an individual's disease."

Comments

Sequence plus a lot of prior work

[jfengel]

Your genome has a lot of differences from the reference genome. They narrowed down the differences based on a lot of previous work discovering genes linked to the disorder.

Only then were they able to zero in on precisely what gene in his specific genome caused the problem, and confirm it by testing other family members.