exome sequencing

Genetic Future

Category archives for exome sequencing

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…

Personal genomics is a rapidly evolving game, with a clear end goal in sight: offering consumers an accurate, affordable and complete genome sequence, and providing them with tools to dig out the useful nuggets of information contained therein. That goal remains out of reach, and while DNA sequencing technology continues to mature companies in the…

A paper just published online in Nature Genetics describes a brute force approach to finding the genes underlying serious diseases in cases where traditional methods fall flat. While somewhat successful, the study also illustrates the paradoxical challenge of working with large-scale sequencing data: there are often too many possible disease variants, and it can be…

Jones et al. (2009). Exomic Sequencing Identifies PALB2 as a Pancreatic Cancer Susceptibility Gene. Science DOI: 10.1126/science.1171202 A paper published online today in Science illustrates both the potential and the challenges of using large-scale DNA sequencing to identify rare genetic variants underlying disease risk. Traditionally, geneticists have pinned down such variants using large family studies.…

Well, it’s a little late, but I finally have a list of what I see as some of the major trends that will play out in the human genomics field in 2009 – both in terms of research outcomes, and shifts in the rapidly-evolving consumer genomics industry. For genetics-savvy readers a lot of these predictions…

PGP sequence data disappointing

The promise of release of raw sequence data files from the first 10 Personal Genome Project volunteers certainly caused a media stir (see the round-up by the PGP’s own Jason Bobe), but the actual released data are pretty underwhelming. So far raw sequence data files have been posted on the PGP profile sites of only…

The first 10 participants of the ground-breaking Personal Genome Project (PGP) will be receiving a hefty chunk of data today: the sequence of the protein-coding regions from many of their genes (collectively known as the “exome”). And if all goes according to plan, they’ll soon be dumping all of that data on the web for…