Genetic Future

Archives for April, 2010

A paper just released in the Lancet describes a thorough and integrated approach to squeezing as much clinically relevant information as possible out of a genome sequence. However, despite a state-of-the-art clinical interpretation pipeline, the major message from the paper is just how far we still have to go before we can make full use…

Kai Wang is a postdoctoral fellow at the Center for Applied Genomics, Children’s Hospital of Philadelphia and an author on numerous genome-wide association studies. He left this lengthy comment as a response to my recent post on this comment by McClellan and King in Cell, and I felt it warranted promotion to a full post…

Yesterday’s inaugural Genomes, Environments, Traits (GET) meeting was by all accounts a massive success, pulling together the largest number of individuals with fully sequenced genomes ever assembled in the same room for a long day of discussion about the future of personal genomics. While I was unfortunately unable to attend myself, there was phenomenal coverage…

This critique of genome-wide association studies by Jon McClellan and Mary-Claire King in Cell is the latest salvo in a prolonged backlash against genome-wide association studies (GWAS). I hope to have more on the McClellan and King paper shortly, but in the meantime I will point you to a positive take on the paper by…

It’s a big week for family genomics. I wrote a couple of days ago about the West family, all four members of which recently had their entire genomes sequenced by Illumina. Now an article in the Salt Lake Tribune reveals the identity of yet another four-person nuclear family with complete genome sequences: the wife and…

Mark Henderson breaks the news of the first sequencing of an entire nuclear family for non-medical (read: recreational) reasons. John West, his wife and two teenage children (aged 14 and 17) apparently paid the full retail price of almost US$200,000 (update: in the comments, Mark writes that West apparently got a “small” but not “hefty”…

My previous post on the Myriad gene patent decision has resulted in one of the most useful and enjoyable comment threads in the history of this blog.  The debate revolves around a single, central question: while it’s clear that the loss of gene-based patent protection (should the current decision be upheld by the Supreme Court)…

If you haven’t already browsed through Nature’s most recent edition, do so immediately – it’s packed with juicy genomic goodness. I particularly enjoyed the brief commentaries from Francis Collins and Craig Venter, both providing retrospectives on the last decade of human genomics and predictions for the future of the field, and the neat infographic illustrating the…

Wellcome Trust Case Control Consortium. (2010). Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls Nature, 464 (7289), 713-720 DOI: 10.1038/nature08979 The Wellcome Trust Case Control Consortium has just published the results of a massive survey of common, large DNA duplications and deletions (collectively termed copy number variation,…