domingo, 30 de agosto de 2015

The DNA of a nation : Nature : Nature Publishing Group

The DNA of a nation : Nature : Nature Publishing Group



The DNA of a nation

Nature
 
524,
 
503–505
 
 
doi:10.1038/524503a
Published online
 
The United Kingdom aims to sequence 100,000 human genomes by 2017. But screening them for disease-causing variants will require innovative software.

Introduction

Sergey Nivens/Shutterstock
Soon after the Californian twins were born, their parents grew concerned: the children were developing slowly and had floppy muscle tone. A brain scan indicated that the boy might have cerebral palsy, but doctors were puzzled over his sister's tremor and seizures. Batteries of tests failed to confirm diagnoses in either child, and treatment when the children were five with the drugL-dopa — used for people with Parkinson's disease — helped only for a while

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