diagnostic software

The Vanderbilt Center for Undiagnosed Diseases will use FDNA's Face2Gene to help evaluate difficult-to-diagnose patients.

PreventionGenetics will use FDNA's technology to expand the diagnostic ability of its testing and interpretation services.

UgenTec and R-Biopharm's collaboration will cover the software's development, regulatory approval, and launch.

The software provides analysis of HLA typing by NGS on several platforms, including ones from Illumina, Thermo Fisher, and PacBio.

Diagnostic decision support company Variantyx is betting that clinicians need help sorting through NGS data and that the trend is toward whole-genome sequencing.

Work from researchers at Charité in Berlin shows that facial dysmorphology analysis technology may increase the diagnostic rate of exome sequencing.

The Dutch firm plans to develop a complete, CE-marked pipeline for NGS-base HLA typing, from DNA amplification to software analysis. 

In a first proof-of-principle, Congenica and Central Manchester University Hospitals NHS Foundation Trust will create a reference laboratory for genomic screening.

A new version of its system planned for summer release will feature a score that helps clinicians prioritize variants and an expanded knowledgebase.

NEW YORK (GenomeWeb) – Syapse said last week that the University of California, San Francisco's Genomic Medicine Initiative and its Helen Diller Family Comprehensive Cancer Center, have selected its cloud-based software to support oncology testing.


360Dx reports that the US Centers for Medicare & Medicaid Services would cover next-generation sequencing-based cancer panel tests.

The Washington Post reports that a meteorologist is being considered as presidential science and technology advisor.

In PNAS this week: precision medicine strategy to screen for disease risk, genome evolution in Haemophilus influenzae, and more.

Researchers have developed a PCR-based assay to gauge whether manatees are present in waters.