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New Products: Ambry's First-Step Exome; Greenwood Genetic Center's Autism Panel; and More

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Ambry Genetics has launched the First-Step Exome test, a sequencing-based test that analyzes the exons and flanking intronic regions of 4,400 genes that are known to be associated with human disease and are defined within the Human Gene Mutation Database. Ambry is marketing the test to clinicians who are considering exome testing for disease phenotypes that have many previously defined genes, but for which traditional testing may be cost-prohibitive.

The test adds to a whole-exome clinical sequencing service that the company launched last year called Clinical Diagnostic Exome (CSN 10/5/2011).


Greenwood Genetic Center has launched the Syndromic Autism 62-Gene Panel, which is based on RainDance's ASDSeq Research Screening Panel, a research-use-only panel that targets 62 genes related to autism.

The Syndromic Autism 62-Gene Panel sequences 62 individual autosomal and X-linked genes that are the most common single-gene etiologies associated with autism spectrum disorders and syndromes in which autism is a significant phenotypic feature.


Cartagenia has released Bench Lab NGS, software for the clinical analysis and interpretation of next-gen sequencing data. The software stores and annotates genomic variants and patient information, identifies disease-causing mutations, validates clinical findings on existing data sets, and generates lab reports.


Ion Torrent has launched AmpliSeq Custom Panels and AmpliSeq Designer for targeted resequencing. AmpliSeq Designer is an online tool that will allow users to custom order panels for sequencing on the Ion Torrent PGM.

The customized panels require 10 nanograms of input DNA, can include up to 1,536 amplicons per tube, and can target between 1 kilobase to 250 kilobases, according to the company.

The Scan

Shape of Them All

According to BBC News, researchers have developed a protein structure database that includes much of the human proteome.

For Flu and More

The Wall Street Journal reports that several vaccine developers are working on mRNA-based vaccines for influenza.

To Boost Women

China's Ministry of Science and Technology aims to boost the number of female researchers through a new policy, reports the South China Morning Post.

Science Papers Describe Approach to Predict Chemotherapeutic Response, Role of Transcriptional Noise

In Science this week: neural network to predict chemotherapeutic response in cancer patients, and more.