Sister blog of Physicists of the Caribbean in which I babble about non-astronomy stuff, because everyone needs a hobby

Tuesday 27 November 2018

Evidence for race in the genome ?

This may go against the oft-reported notion that race doesn't exist genetically.

The reference genome is an essential map of human genetic material that is used as a basis for comparison. When we sequence our own DNA for insight into health, family history, and future disease risk, we chop up the sequence into lots of little pieces and compare stretches of it to the reference genome, looking for areas where we differ. The fundamental problem with this, the scientists write in a recent paper in Nature Genetics, is that the reference genome is based largely on a single person. Considering the myriad genetic differences among the 7.7 billion people alive today, that’s obviously not ideal.

Professor of computer science and biostatistics Steven Salzberg, Ph.D., and Rachel Sherman, a Ph.D. candidate, make the case that this single reference genome doesn’t capture the diversity of human genetics. Some populations, they add, differ too much from this reference genome. To make their case, they refer to the genomes of 910 individuals from twenty different countries, all of pan-African descent.

Over the years, we’ve continuously workshopped the reference genome. But recent analysis indicates that almost seventy percent of its material was gleaned from a single African-American individual, who is referred to only as RPCI-11, explains Salzburg.

Instead of striving for a single universal reference genome, the team argues, we should have a bunch of reference genomes — perhaps one for each population of interest.

Originally shared by Sakari Maaranen

You thought #human #genome had been mapped? Well, a human genome was.
https://www.inverse.com/article/51084-reference-genome-human-genetics-testing?refresh=64

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