The company launched in 2013 as a spinout from Boston Children's Hospital to provide genetic diagnostic tests.
Family members with diabetes and others with insulinomatosis both harbor the same missense MAFA mutation.
The partners will use whole-genome sequencing to investigate the molecular pathways involved in GNE myopathy, a progressive muscle-wasting disease.
The team said that by understanding why some members of this family don't feel pain, they could unearth new drug targets to treat others with chronic pain.
The firm, which specializes in neurogenetics, recently launched several diagnostic RNA sequencing tests and is working on a methylome test for imprinting disorders.
The partnership combines sequencing with phenotype information to help diagnose patients with rare diseases.
As of this week, the project had sequenced 39,500 genomes and returned reports for about 3,000 rare disease families and more than 600 cancer patients.
Carrier screens for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy detected carrier status in one in 20 individuals and led to diagnoses in seven pregnancies.
Researchers have increased their estimate of the heritability of ASD to 83 percent based on a reanalysis of their prior study of Swedish families.
Rainbow Genomics will offer exome-sequencing based screening and diagnostic tests developed by Baylor Genetics to patients in Asia.
The multiplexed PCR kit will target mutations associated with cystic fibrosis that are highly prevalent in the US, and the firm is also eyeing the Middle East and Africa.
Despite years of experience of returning genetic test results, clinicians and researchers are still faced with many questions, such as what to do about VUS and secondary findings.
PacBio is refining the CRISPR/Cas9 capture technique with several early- access sites and plans to launch it more broadly in 2018.
Last week, the company launched whole-genome sequencing of children for customers of its ViaCord cord blood and tissue banking business.
The researchers observed that eliminating these microsatellite repeat expansion RNAs in patient cells reversed some hallmark features of the diseases.
Genome.One's GoNavigate test will analyze the genetic risk for 49 disorders, as well as PGx variants related to more than 220 drugs.
With the new certification in hand, the company plans to expand its business in the US through its Pennsylvania-based subsidiary, B. Braun CeGaT.
A study by researchers in Italy found that preimplantation genetic diagnosis and screening combined led to more successful pregnancies per transfer but fewer women had embryos transferred.
RNA sequencing of patient-derived fibroblasts was able to provide 10 percent of patients with a diagnosis after whole-exome sequencing had failed.
At the European Society of Human Genetics annual meeting in Copenhagen this week, several groups presented studies involving automated facial analysis software.
In a commentary at eLife, Brandeis University's Eve Marder calls on researchers to value and pursue truth.
Researchers have developed a way to quickly edit white blood cells, according to the New York Times.
In Science this week: rice gene enables plants to grow quickly in times of flooding, and more.
Education-linked genetic variants could also predict a small portion of a person's social mobility, Newsweek reports.