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Complete Genomics has created a repository where it will make available whole human genome sequence data. Currently, researchers can access data from 40 whole genomes, and the company will make an additional 20 available by the end of March. The 60 genomes were sequenced to an average of 55-fold coverage, generating 12.2 terabases of mapped reads.

Included in the sample is a 17-member, three-generation CEPH pedigree from the National Institute of General Medical Sciences repository and ethnically diverse samples representing nine different populations from the National Human Genome Resources Institute repository.


New England Biolabs has released NEBNext Small RNA sample prep reagents for sequencing on the Illumina platforms and a separate set of reagents for small RNA sequencing on Life Technologies' SOLiD.



Caliper Life Sciences
has developed automated sequencing protocols on its Sciclone NGS Workstation for Illumina's TruSeq DNA and RNA sample prep kits, Illumina's standard library prep kits, Agilent's SureSelect Target Enrichment kits, Nimblegen's SeqCap EZ Human Exome Library, and Life Technologies' SOLiD sequencing chemistry.

In addition, the company said recently that it would collaborate with NuGen to automate its Ovation and Encore reagent solutions.



CLC Bio
and Omixon have released the Omixon Gapped SOLiD Alignment plug-in for the CLC Genomics Workbench. The software enables Omixon's variant-calling software for Life Technologies' SOLiD to be offered through CLC Bio's more general software.

In addition, CLC Bio has released an updated version of its Genomics Workbench, which enables analysis of paired-end RNA-seq data and also includes a new algorithm for mapping SOLiD reads.



DNAnexus
has added a Variation Identification workflow to its cloud-based platform for analyzing sequence data. According to the company, the new capability combines a population allele frequency analysis application with nucleotide-level variation analysis to identify alleles and their frequency population, and also features a query tool to filter biologically relevant variants. In addition, the software contains detailed information about each gene, and links to third-party sources for further disease impact analysis.

Researchers at Johns Hopkins School of Public Health have released new versions of Myrna, a cloud computing tool for calculating gene expression in large RNA-seq data sets, and Crossbow, a cloud-scale genotyping tool. Both data analysis tools use Bowtie for alignment.


The Scan

Lung Cancer Response to Checkpoint Inhibitors Reflected in Circulating Tumor DNA

In non-small cell lung cancer patients, researchers find in JCO Precision Oncology that survival benefits after immune checkpoint blockade coincide with a dip in ctDNA levels.

Study Reviews Family, Provider Responses to Rapid Whole-Genome Sequencing Follow-up

Investigators identified in the European Journal of Human Genetics variable follow-up practices after rapid whole-genome sequencing.

BMI-Related Variants Show Age-Related Stability in UK Biobank Participants

Researchers followed body mass index variant stability with genomic structural equation modeling and genome-wide association studies of 40- to 72-year olds in PLOS Genetics.

Genome Sequences Reveal Range Mutations in Induced Pluripotent Stem Cells

Researchers in Nature Genetics detect somatic mutation variation across iPSCs generated from blood or skin fibroblast cell sources, along with selection for BCOR gene mutations.