rare disease

Exome or targeted sequencing on members of families affected by Carey-Fineman-Ziter syndrome led to mutations in the MYMK gene that impact muscle cell fusion.

An exome sequencing analysis of individuals from eight families led to homozygous loss-of-function mutations in CD55 and ties to complement system activity.

Centogene said it will use the funds to accelerate growth and expansion in the areas of genetic testing, pharmaceutical collaborations, and big-data solutions.

Sanford Health is teaming up with Genome.One to incorporate patient-generated data into WGS outputs to help elucidate the genetic basis of rare diseases.

The companies will use ReadCoor's spatial omics platform to create a cell network map of the mouse brain to inform targeted drug delivery for Wave's medicines.

An opinion piece at Wired says that pre-implantation genetic diagnosis and in vitro fertilization could prevent many rare genetic diseases.

Diploid hopes to lighten the workload of clinical geneticists drowning in next-generation sequencing data.

Incorporating splicing and other clues from muscle transcripts, researchers reached diagnoses in cases that were inconclusive after sequencing alone.

The collaborators are each providing funding and samples, and plan to study about 100 patients with a subset of Castleman disease to identify biomarkers.

Undiagnosed Disease Network researchers used exome sequencing to diagnose more than one-quarter of individuals previously denied clinical exome reimbursement.

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CNBC reports that Amazon invested in the startup Grail as it sees an opportunity for its cloud computing company in genomics.

Lawrence Krauss writes at Slate that science is needed for good public policy and should not be ignored.

Researchers are working on re-making the yeast genome from scratch, according to the Associated Press.

In Cell this week: functional profiling of Plasmodium genome, a self-inactivating rabies virus, and more.