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.

Cincinnati Children's Hospital Medical Center researchers found that disease risk loci overlap with transcription factor binding sites.

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.

Only three out of 10 sequencing workflows detected all variants in a synthetic reference sample, according to a study presented at ACMG.

The DOJ alleged Biotheranosics promoted and performed its Breast Cancer Index test for  patients who had not been in remission for five years and who had not been taking tamoxifen.

The DOJ alleged Biotheranosics promoted and performed its Breast Cancer Index test for  patients who had not been in remission for five years and who had not been taking tamoxifen.

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

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

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.

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.