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rare disease

The Genomics4RD platform is focused on data harmonization from research collaborations across Canada, but its developers are eyeing a future in the clinical market.

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.

This embargo-free strategy represents "an entirely new way of doing research" into rare pediatric cancers, where time is of the essence.

This Week in Nature

In Nature this week: large Alzheimer's disease GWAS uncovers novel loci, new CRISPR interference-based approach, and more.

The New York Times highlights the Undiagnosed Disease Network.

Gizmodo reports that researchers have linked a genetic variant to the screw-like tail of bulldogs and some terriers.

The launch of the sequencing platforms is a milestone for the Plan France Médecine Génomique 2025, a €670 million initiative the French government announced two years ago.

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.

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The long-running Framingham Heart Study has received a $38 million grant, according to the Boston Globe.

A Stanford University investigation finds that its researchers did not take part in He Jiankui's work to develop gene-edited infants.

Retraction Watch reports that two researchers had both a Science and a Nature paper retracted last week.

In Genome Biology this week: genomic sequencing of milkweed bug, benchmark comparison of single-cell RNA sequencing platforms, and more.