The one-year projects aim to create computational tools, algorithms, visualizations, and benchmark datasets for use with Human Cell Atlas data.

Conducting studies on Latina and African-American women produces population-specific insights on the genetics of the disease that aren't possible to glean in European-heavy GWAS.

The FDA approved its use with tissue or plasma biopsies, giving clinicians a non-invasive option to conduct a test that provides results in a day.

Presentations largely reflected negatively on the utility of PD-L1 for stratifying response, but pivotal new data on tumor mutational burden as assessed by Foundation Medicine's genomic sequencing panel.

Plenary session Chairwoman Elaine Mardis said the presentations made it clear how great the need is for interdisciplinary science as data becomes ever more complex.

A Color Genomics collaborator reported that nearly half of first-degree relatives who were invited for reduced-cost testing in cancer-related genes opted to participate.

In an against-all-odds twist, a researcher studying exceeding rare FOXG1 mutations discovers her daughter has the syndrome.

An effort by Genomics Medicine Ireland is creating a database of diseases based on the genomics of people in Ireland. It now is looking into the possibility of including Scotland in its work.

In recent weeks, the direct-to-consumer genetics firm has rolled out a health hub where customers can share information concerning 18 common health conditions.

In PLOS this week, new genes associated with prostate cancer risk, genetic patterns in M. bovis, and more.

This case study shows how the University Medical Center (UMC)
Utrecht Genetics Department built a foundation to efficiently transition to
whole genome sequencing with combined CNV and SNV analysis on the
same data set.

The foundry model is poised to fundamentally transform the biotechnology sector. As it revolutionized the semiconductor industry in the mid 1980’s, the foundry model brings to molecular diagnostic companies a method to leverage the commonality of manufacturing techniques. By joining common manufacturing processes across several companies, assay manufacturing becomes a variable cost versus a fixed cost with substantial benefits to assay developers.

With increased biomarker and specialty lab data being incorporated into FDA submissions, drug developers are running into challenges as they prepare data that comply with new regulatory requirements. Precision for Medicine's experts present a case study for addressing these challenges and provide a solution.