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NGS Leaders Blog

What Were the Best NGS Papers of 2011?

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 de novo genome assemblyJanuary 10, 2012 

Kevin Davies : 

In its blog, The Spittoon, 23andMe recently posted a Top Ten list of the consumer genomics firm’s favorite research papers of 2011 

Not surprisingly, the selections focus on the plethora of genome-wide association studies (GWAS) that still dominate many of the leading genetics journals. 23andMe’s top choice just happened to be one of its own papers, but I wouldn’t quibble with that decision too much.

Last summer in PLoS Genetics, 23andMe researchers published a paper mapping two novel risk genes for Parkinson’s disease by mining data on thousands of Parkinson’s sufferers among its 125,000 customers. The 23andMe strategy flips traditional GWAS on its head: rather than select thousands of individuals with a particular disorder and then perform a GWAS, 23andMe performs the genotyping first on its full database, and then stratifies by disease. It is groundbreaking science like this that serves as a swift rebuttal to those who insist on maligning the consumer genomics company as merely “recreational genomics."

What if we broaden the criteria slightly and consider papers focusing on NGS? Of the papers that stood out to me, several focused on the introduction of exome and genome sequencing and analysis in the clinic. Pride of place goes to the landmark report in Genetics in Medicine by Elizabeth Worthey, Howie Jacob and colleagues at the Medical College of Wisconsin in ending the diagnostic odyssey surrounding Nicholas Volker, a 7-year-old boy with a mysterious intestinal disorder who was successfully treated following the discovery of a rare genetic mutation. The peer review paper was formally published in 2011, a couple of months after a Pulitzer Prize-winning series of articles ran in the Milwaukee Journal Sentinel. 

Two papers in the Journal of the American Medical Association from the Washington University team led by Timothy Ley, Elaine Mardis and Richard Wilson illustrated the potential of whole-genome sequencing analysis in cancer patients. One revealed a cryptic fusion oncogene in a patient with acute promyelocytic leukemia with therapeutic implications; the other identified a novel p53 mutation in a patient with increased cancer susceptibility. 

Also of note was the sequencing of a pair of teenage twins with Dopa-responsive dystonia, by Matthew Bainbridge, Richard Gibbs and colleagues at the Baylor College of Medicine that pinpointed the causative gene mutation, and was published in Science Translational Medicine. 

From China, BGI published twenty NGS papers in 2011, including the genomes of the naked mole rat and the hybrid Escherichia coli strain responsible for several fatalities in a food poisoning outbreak in Germany last summer.

So what were your favorite, most impressive NGS papers of 2011?

I-Study: Genomic Interpretation - Who Will Pay?
During this webinar, members of the study review team present preliminary findings of the I-Study, conducted at the Harvard Medical School's 2011 Personalized Medicine Conference.
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