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carrier screening

Genetic testing firm GenePeeks found discrepancies between carrier screening tests, although those firms found fault with its variant classification methods. 

The firm's CEO Ramji Srinivasan said the layoffs would help focus the company on developing relationships with clinicians and medical providers.

The study will evaluate GenePeeks' computational approach to assess reproductive risk compared to standard carrier screening in couples hoping to conceive a child.

GINA Goes to School

A boy's cystic fibrosis carrier status was revealed by a teacher to the parents of children with CF who then sought the boy's transfer to another school, leading to a lawsuit.

The firms found that NGS-based carrier screening is more cost effective than genotyping-based testing for 14 disorders and results in fewer affected births. 

Carrier testing results suggest that more than 25 percent of Sephardic, Mizrahi, and Persian Jewish individuals may also carry recessive disease-causing alleles.

Good Start will serve as an in-network laboratory partner for a variety of genetic screening tests.

The goal is to develop a standardized education and credentialing process for healthcare personnel and to generate tools and resources to help pregnant women make prenatal genetic testing decisions.

The firm has screened over 71,000 patients and identified more than 3,000 carriers, up to 25 percent of whom would have been missed with traditional screening tests.

The NBSeq project will involve exome sequencing on some 1,600 newborn blood spot samples.

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Rady Children's Institute for Genomic Medicine and Deloitte are looking into the use of drones to transport samples for testing. 

Direct-to-consumer genetic testing firm 23andMe is laying off about 100 people.

Researchers from Northwestern University examined dust for antibiotic-resistance genes, New Scientist reports. 

In Science this week: researchers present a computational method for predicting cellular differentiation state from single-cell RNA sequencing data, and more.