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rare disease

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.

The Family Variant

The Columbus Dispatch tells the story of two sisters who've inherited a rare genetic illness.

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A new study catalogues the genome and evolutionary history of the oak family, UPI reports.

Dog DNA testing is a growing market, but there's still a lot of uncertainty about the accuracy of the results, the Boston Globe says.

A University of South Florida researcher is testing bone fragments to determine if they belong to Amelia Earhart.

In Cell this week: antisense Piwi-interacting RNA responses to endogenous retroviruses, proteomic patterns in hepatocellular carcinoma, and more.