whole-genome sequencing

Genetic Future

Category archives for whole-genome sequencing

As part of his Gene Week celebration over at Forbes, Matthew Herper has a provocative post titled “Why you can’t have your $1000 genome“. In this post I’ll explain why, while Herper’s pessimism is absolutely justified for genomes produced in a medical setting, I’m confident that I’ll be obtaining my own near-$1000 genome in the…

Jay Flatley, CEO of sequencing giant Illumina, announced at the Consumer Genetics Conference today that the company had reduced the price of its retail whole-genome sequencing service. At $19,500 this still isn’t in the realm of an impulse buy for most of us, but it’s a long way down from the $48,000 that Illumina offered at…

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…

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”…

Zoe McDougall from Oxford Nanopore points me to a press release from Illumina announcing a new era of celebrity genomics: Illumina, Inc. (NASDAQ:ILMN) today announced that it has sequenced the DNA of American actress Glenn Close, the first publicly named female to have her DNA sequenced to full coverage. The service was completed in Illumina’s…

Lupski, J.R., et al. (2010). Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. New England Journal of Medicine advance online 10.1056/nejmoa0908094 Roach, J.C., & et al. (2010). Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science : 10.1126/science.1186802 Two new papers out today – the first ever studies to employ whole-genome sequencing for disease gene…

The main theme of this year’s Advances in Genome Biology and Technology meeting should come as no surprise to regular readers: sequencing. Generating as many bases of DNA sequence as quickly, cheaply and accurately as possible is the goal of the moment, and the number of companies jostling to achieve that goal is growing rapidly.…

Stephen Turner from Pacific Biosciences gave a dramatic presentation this afternoon launching PacBio’s new third-generation sequencing instrument. The room was packed for the seminar, with a palpable buzz, and Turner’s presentation was preceded by a theatrical introduction from PacBio CEO Hugh Martin.  The crescendo of Turner’s presentation was the unveiling of a video showing the…

Belated news from AGBT

I’ve been remiss in blogging from the Advances in Genome Biology and Technology meeting here in Marco Island, Florida, primarily due to some panic-stricken last-minute changes to the slides for my own presentation last night. Fortunately the conference has been extremely well-covered by others: Sanger colleague Luke Jostins has blog posts up summarising day 1…