exome sequencing

PerkinElmer is working on an app that reports pathogenic or likely pathogenic ACMG-59 genetic variants, and NorthShore's app will report a prostate cancer risk score.

Targeted profiling of more than 100,000 cancers by Foundation Medicine suggests mutation-rich tumors occur quite frequently, perhaps opening the door to broader immunotherapy application.

This Week in PLOS

In PLOS this week: COLEC10 linked to craniofacial development, transcripts and peptides of spider venom, and more.

NHGRI researchers showed that they were able to extract more useful pharmacogenetic information from exome data than from current chip data. 

A genetic testing utilization service launched by Stanford in 2015 helped cut the number of inappropriately ordered tests in half and saved about $250,000 during the first year.

Using whole-exome sequencing early in the diagnostic process could save $3,500 on average in patients who obtain a diagnosis from it and $1,700 in patients who do not.

Six percent of patients diagnosed by exome sequencing received more than one molecular diagnosis, which can be important for their clinical management.

A researcher with the Genome Analysis Center had his and his family's exomes sequenced and interpreted and found little overlap between different providers' analyses.

The software offers data processing and management capabilities that are designed to support more automated and efficient whole-exome sequencing-based testing.

Regeneron Pharmaceuticals

Equipped with 10 Illumina HiSeq 2500s and one PacBio RSII, the Regeneron Genetics Center cranks out more than 1,200 exomes per week.

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Sometimes genetic tests give inconclusive results and provide little reassurance to patients, the Associated Press reports.

Vox wonders whether gene-editing crops will be viewed similarly as genetically modified organisms of if people will give them a try.

In Science this week: research regulation and reporting requirement reform, and more.

With H3Africa, Charles Rotimi has been working to bolster the representation of African participants and African researchers in genomics, Newsweek reports.