rare disease

Centogene said it will conduct molecular diagnostic testing using deletion/duplication analysis and full-length sequencing of the DMD gene.

As part of the collaboration, Belgium-based Diploid will integrate Genomenon's Mastermind genomic search engine into its Moon diagnostic software.

The UK informatics startup has received funding from Innovate UK to implement an informatics platform for physicians to identify patients for genomic testing.

With genealogical data for 3.4 million individuals from Quebec, investigators traced a rare heart and digestive disease back to two 17th century founder families.