a simple question about human mutation rate

Steven Salzberg

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Jan 10, 2014, 4:07:42 PM1/10/14

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hi colleagues,
I have a very simple question, asked by my daughter's high school biology teacher, who asked her to forward it to me.

He is trying to tell the students what the human mutation rate is. He found references via Wikipedia that it's 2.5 mutations per 10^8 bases per generation, so about 80 mutations (30 x 2.5) per genome per generation. I don't know precisely what this is based on.

So does anyone know if this answer is reasonable, or if not, what a better answer would be? It's a simple question, but I know the answer is not so simple.

Steven

--

Steven L. Salzberg, Ph.D.

Professor of Medicine, Biostatistics, and Computer Science

Director, Center for Computational Biology

McKusick-Nathans Institute of Genetic Medicine

Johns Hopkins University School of Medicine

733 N Broadway, MRB 459

Baltimore, MD 21205

Phone: 410-614-6112 Email: salz...@jhu.edu

Website: ccb.jhu.edu/people/salzberg

Blogs: genome.fieldofscience.com and forbes.com/sites/stevensalzberg/

David Valle

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Jan 10, 2014, 4:14:39 PM1/10/14

to Steven Salzberg, igm-f...@googlegroups.com

It is about correct. One source of data is from sequencing trios where the number of de novo’s is roughly 100 (usually a little less). Hence, about 1 de novo per exoome. The number goes up with paternal age (see the DeCode paper on paternal age and schizophrenia from about 18 months ago, Auggie Kong was the first author I believe)

David Valle, MD

Henry J. Knott Professor and Director,

McKusick-Nathans Institute of Genetic Medicine

The Johns Hopkins School of Medicine

519 BRB

733 N Broadway

Baltimore, MD, 21205

Email: dva...@jhmi.edu

Phone 410-955-4260

Fax: 410-955-7397