Register for an account


Enter your name and email address below.

Your email address is used to log in and will not be shared or sold. Read our privacy policy.


Website access code

Enter your access code into the form field below.

If you are a Zinio, Nook, Kindle, Apple, or Google Play subscriber, you can enter your website access code to gain subscriber access. Your website access code is located in the upper right corner of the Table of Contents page of your digital edition.


In search of rare variants

Gene ExpressionBy Razib KhanApril 21, 2009 12:03 AM


Sign up for our email newsletter for the latest science news

In response to the NEJMissue on personal genomics and the CDCV hypothesis, p-ter offers a proposal:

Let's follow Goldstein's back-of-the-envelope calculations: assume there are ~100K polymorphisms (assuming Goldstein isn't making the mistake I attribute to him, this includes polymorphisms both common and rare) that contribute to human height, that we've found the ones that account for the largest fractions of the variance, and that these fractions of variance follow an exponential distribution. Now, assume you have assembled a cohort of 5000 individuals and done a genome-wide association study using common SNPs. You find some interesting things, but you want more. Now, you have two choices: sequence those 5000 individuals to look for rarer variation, or increase sample size to 20,000 and perform another association study using the same set of common polymorphisms.

Read the whole thing.

    3 Free Articles Left

    Want it all? Get unlimited access when you subscribe.


    Already a subscriber? Register or Log In

    Want unlimited access?

    Subscribe today and save 70%


    Already a subscriber? Register or Log In