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New Product Watch: Mar 31, 2009


Affymetrix last week launched the second version of its Cytogenetics Solution, which includes arrays, reagents, and software for the detection of chromosomal aberrations.

The new version includes Affy's Cytogenetics Whole-Genome 2.7M Array and Cytogenetics Focused Array, both of which include copy-number variants and SNPs to identify loss of heterozygosity, uniparental disomy, and regions identical-by-descent.

Specifically, the Whole-Genome 2.7M Array provides whole-genome coverage with 2.7 million markers, including 400,000 SNPs. The Focused Array includes more than 330,000 markers within focused regions of known cytogenetic importance. The Focused Array also maintains a backbone of markers at 16 kilobase spacing to provide whole-genome coverage. Both arrays offer coverage of cytogenetic hot spots, including haploinsufficiency genes, cancer genes, and regions associated with microdeletion syndromes, Affy said.

Affy has also updated its cytogenetic assay and software with the new release.

AltheaDx last week launched RNA QC, a service that informs clinical researchers of the accuracy of results from a patient's genetic test.

The test examines the quality of RNA isolated from formalin-fixed, paraffin-embedded samples, a process that is known to degrade genetic material.

AltheaDx's RNA QC assay uses multiplexed PCR technology to examine the integrity of nine different genes to determine the quality of RNA from a FFPE sample. An algorithm then generates a predictive score to show how well the RNA will perform on a subsequent PCR or microarray-based genetic test, the company said.

The Scan

Study Points to Tuberculosis Protection by Gaucher Disease Mutation

A mutation linked to Gaucher disease in the Ashkenazi Jewish population appears to boost Mycobacterium tuberculosis resistance in a zebrafish model of the lysosomal storage condition, a new PNAS study finds.

SpliceVault Portal Provides Look at RNA Splicing Changes Linked to Genetic Variants

The portal, described in Nature Genetics, houses variant-related messenger RNA splicing insights drawn from RNA sequencing data in nearly 335,700 samples — a set known as the 300K-RNA resource.

Automated Sequencing Pipeline Appears to Allow Rapid SARS-CoV-2 Lineage Detection in Nevada Study

Researchers in the Journal of Molecular Diagnostics describe and assess a Clear Labs Dx automated workflow, sequencing, and bioinformatic analysis method for quickly identifying SARS-CoV-2 lineages.

UK Team Presents Genetic, Epigenetic Sequencing Method

Using enzymatic DNA preparation steps, researchers in Nature Biotechnology develop a strategy for sequencing DNA, along with 5-methylcytosine and 5-hydroxymethylcytosine, on existing sequencers.