Wednesday 13 April 2016

Mysterious mutants: 13 masked people should have devastating diseases—but don’t



With a deluge of DNA sequences pouring in from various studies, researchers diving in are finding that Mendelian genetics may be a lot muddier than expected. Wrinkled peas aside, certain bad mutations may not always be bad.


After sifting through the genetic codes of nearly 600,000 adults, researchers discovered that 13 of them were healthy despite carrying mutations that were thought to guarantee devastating childhood disorders, such as cystic fibrosis and those that cause severe skeletal malformations. The authors, led by Stephen Friend of the Icahn School of…



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Mysterious mutants: 13 masked people should have devastating diseases—but don’t

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