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Commentary on human genetics and evolution, direct-to-consumer genetic testing, and the personal genomics industry.
Daniel MacArthur
I write about the genetic and evolutionary basis of human variation, and the companies trying to sell you information about your genome.
Daniel also blogs about personal genomics at Genomes Unzipped.
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Category: disease genetics
Two studies released today report the first ever uses of whole genome sequencing to pin down the genetic basis of severe disease. In the process, they illustrate both the promise and the serious challenges ahead as we move into the era of personal whole-genome sequencing.
Posted by Daniel MacArthur at 5:00 PM • 11 Comments •
Category: exome sequencing
Boutique personal genomics company Knome has launched a new product: the sequence of all of the protein-coding regions of your genome for a mere $24,500.
Posted by Daniel MacArthur at 10:15 AM • 7 Comments •
Category: exome sequencing
A recent study adopts a brute force approach to finding genes associated with mental retardation - simply sequencing every protein-coding region on the X chromosome. It's results illustrate both the power and the major challenges of using large-scale sequencing to find disease-causing variants.
Posted by Daniel MacArthur at 8:30 AM • 2 Comments •
Category: disease genetics
A paper published online today in Science illustrates the power of modern genomic technologies for finding cancer susceptibility mutations - but also shows just how difficult it will be to find disease variants amidst the noise of normal genetic variation.
Posted by Daniel MacArthur at 6:44 PM • 3 Comments •
Category: predictions
2009 will be a huge year for the field of human genomics - here are my predictions regarding some of the major trends we're likely to see.
Posted by Daniel MacArthur at 7:20 AM • 4 Comments •
Category: personal genome project
Amid much media excitement the Personal Genome Project has released preliminary sequence data from four participants, including George Church and Esther Dyson. Thus far the results are rather underwhelming.
Posted by Daniel MacArthur at 10:10 AM • 5 Comments •
Category: exome sequencing
The Personal Genome Project will begin releasing genome sequence data to its first 10 participants today - and they will get to decide whether or not to broadcast their genetic secrets to the rest of the world.
Posted by Daniel MacArthur at 1:53 PM • 3 Comments •
Orac 02.13.2012
ERV 11.26.2011
Orac 01.26.2012
PZ Myers 02.02.2012
Jason Rosenhouse 02.12.2012
