I just read Gregory Cooper and Jay Shendure's review "Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data" in Nature Reviews Genetics. It's a good review about how to narrow down deleterious disease-causing variants from many, many variants throughout the genome when statistics and genetic information alone isn't enough.

Sequencing company Complete Genomics recently made available 69 ethnically diverse complete human genome sequences: a Yoruba trio; a Puerto Rican trio; a 17-member, 3-generation pedigree; and a diversity panel representing 9 different populations. Some of the samples partially overlap with HapMap and the 1000 Genomes Project. The data can be downloaded directly from the FTP site.

PLINK/SEQ is an open source C/C++ library for analyzing large-scale genome sequencing data. The library can be accessed via the pseq command line tool, or through an R interface. The project is developed independently of PLINK but it's syntax will be familiar to PLINK users. PLINK/SEQ boasts an impressive feature set for a project still in the beta testing phase.

This is a few months old but I just got around to reading this series of blog posts on next-generation sequencing (NGS) by Gabe Rudy, Golden Helix's VP of product development. This series gives a seriously useful overview of NGS technology, then delves into the analysis of NGS data at each step, right down to a description of the most commonly used file formats and tools for the job. Check it out now if you haven't already.

I recently analyzed some next-generation sequencing data, and I first wanted to compare the frequencies in my samples to those in the 1000 Genomes Project. It turns out this is much easier that I thought, as long as you're a little comfortable with the Linux command line. First, you'll need a Linux system, and two utilities: tabix and vcftools. I'm virtualizing an Ubuntu Linux system in Virtualbox on my Windows 7 machine.

I'm working on a project using next-gen sequencing to fine-map a genetic association in a gene region. Now that I've sequenced the region in a small sample, I'm picking SNPs to genotype in a larger sample. When designing the genotyping assay the lab will need flanking sequence. This is easy to get for SNPs in dbSNP, but what about novel SNPs?

Pacific Biosciences is hosting a reception and dinner, and is screening their film The New Biology at this year's ASHG meeting.

Next week Brent Anderson with Illumina will be hosting a seminar series showcasing presentations from Vanderbilt scientists using Illumina technology to power their next-generation sequencing studies.

Definitely a seminar not to miss: Curtis Fideler, director of Sales at Pacific Biosciences, will be giving a special seminar here at Vanderbilt Thursday, May 20, 11:00a-noon in 202 Light Hall entitled "An Introduction to SMRT Sequencing: A description of Pacific Biosciences single molecule real time sequencing technology." Science: Real-Time DNA Sequencing from Single

Suppose you have billions of reads from a hot new sequencing machine and you want to simultaneously align these reads and call SNPs very quickly on the cheap. Check out an open source tool called Crossbow and the recent paper in Genome Biology.