Two Studies Highlight Ability of Whole-Genome Sequencing to ID Causative Genes in Mendelian Disease

The researchers from both studies said that their approaches will be useful for studying not only Mendelian diseases, but also more complex diseases.

At AGBT, Complete Genomics Sketches Route to 1M Human Genomes; Discusses Early Customer Projects

The company's CSO presented a number of early customer projects, including rare disease studies of a family and an individual, and the firm's first analysis of a primary tumor. In addition, Complete Genomics recently provided details about its commercial service.

Illumina Demonstrates 350 Gb Run on HiSeq 2000; Shows Sequencing Apps for New Instrument

During a company workshop at the Advances in Genome Biology and Technology conference this month, Illumina representatives and a customer showed results from early projects in which they used the HiSeq 2000 for whole-genome sequencing and gene expression analysis and compared its performance to that of the GAIIx.

Life Tech Outlines Path to 500-Gb SOLiD Run; Plans Paired-End, Longer Reads for SOLiD 4

Life Tech researchers have developed 50-base/25-base paired-end reads for SOLiD 4 that make use of an engineered ligase and plan to increase the read length to 75-base reads with the SOLiD 4 hq update.

Stanford Team Combines Sequencers to Detail Transcriptome Changes in Neural Cell Differentiation

Sequencing the transcriptomes of human neural stem cells with the Illumina GA and 454's GS FLX at various stages of differentiation revealed previously unannotated transcripts and isoforms, which could lead to a better understanding of neurodegenerative diseases, according to the researchers.

Consortium Sequences Gut Microbiomes for 124 People on Illumina GA

The sequencing was done at BGI-Shenzen and marked the first step in the four-year MetaHIT project, which aims to create a comprehensive gene catalog of the gut microbiome in order to understand how the bacteria that live in human intestines are related to disease.

PacBio Takes Top Spot, Complete Genomics Ranks Seventh Among VentureSource's Top 50 VC-Backed Firms

Almost 5,200 firms were eligible for the analysis, which only considered firms that raised equity financing in the last three years and have a valuation of $1 billion or less.

Life Tech, TGen, US Oncology to Partner on Breast Cancer Sequencing Study Aimed at Therapy Advice

The goal of the study is "to demonstrate whether genomic sequencing of cancer tissues can provide clues for treatment strategies for these individuals," according to the partners.

Paired Ends

Colin Dykes, Dale Sanders, Chris Lamb, Michael Bevan, Maynard Olson, Elaine Mardis

New Products

Fluidigm's Access Array, COSMIC 46, Galaxy, Epigentek's BisulFlash DNA Modification Kit

Ion Torrent Systems Presents $50,000 Electronic Sequencer at AGBT

The instrument will cost less than $50,000 and generate "hundreds of millions of bases" and "millions" of highly accurate reads per run, each several hundred bases in length, according to Jonathan Rothberg, the company's co-founder and CEO. Each run will take about an hour and cost less than $500.

Life Tech Details Real-Time Single-Molecule Tech at AGBT; Combines Qdots with FRET-Based Detection

So far, the company has only used the technology, internally named "Starlight," to sequence synthetic DNA of about 100 bases on approximately a dozen prototype machines, but early-access collaborations with research groups are slated to start in the fourth quarter.

At AGBT, Pacific Biosciences Unveils Commercial Instrument; Shows 10 kb Read, Variety of Applications

Pacific Biosciences presented its commercial sequencing instrument, the Pacbio RS, publicly for the first time last week, along with a 10-kilobase read generated on the machine and a number of applications, ranging from influenza virus sequencing to structural variation analysis in humans and mutation detection in cancer.