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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A new analysis examines the gender gap among paper authors in the sciences and says it may take decades or more to close.

Researchers have uncovered signals of selection that may enable the Bajau people to free five hundreds of feet deep, Reuters reports.

In Science this week: paternally inherited cis-regulatory structural variants in autism, and more.

A new report outlines issues facing the implementation of personalized medicine in the UK, the Independent reports.