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The study aims to enroll 10,000 Floridians to have their exomes screened for variants indicative of familial hypercholesterolemia risk.
Researchers plan to compare rapid whole-genome sequencing with standard diagnostic methods in 200 critically ill newborns.
The new assay is part of the company's prenatal and women's health offerings, but it is also developing a preeclampsia test and technology for gastrointestinal testing.
The assessment incorporates different ethnic backgrounds, but debate continues among researchers on the utility of polygenic risk scores for diabetes.
A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.
The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.
The company will use the money to launch its first product, Unity, a noninvasive prenatal test for recessively inherited single-gene disorders.
The addition of the Y chromosome detection will enable the firm to refine its already-approved MaternalFetalScreen T1 test to provide personalized risk assessment.
Under a proposed decision, to be finalized in August and become effective in late 2020, NIPT would only be covered for women with particular fetal trisomy risks.
The Genomics4RD platform is focused on data harmonization from research collaborations across Canada, but its developers are eyeing a future in the clinical market.
The companies will develop an IVD system based on the MiniSeq initially to diagnose hereditary kidney disease.
The consortium plans to develop recommendations on the best practices for implementing clinical whole-genome sequencing for rare genetic disease diagnosis.
The team plans to launch an RNA-seq diagnostic test out of the SickKids clinical laboratory in one year to complement clinical exome sequencing.
The clearance enables 23andMe to report on the two most common variations in the MUTYH gene influencing MAP, which increases risk of CRC development.
The Hong Kong government has initially earmarked HK$682 million (US$87 million) and an average of HK$87 million per year for six years for the project.
Within the country's first whole-genome sequencing program, researchers hope to initially focus on identifying markers associated with hereditary diseases and cancer risk.
The company has begun piloting the software, which is targeted towards bioinformatics companies and clinical laboratories, with early adopters ahead of the planned launch.
The acquisition is expected to enhance Health Network Laboratories’ inherited genetic disorders diagnostic services offerings.
The analysis found that charges for suspected genetic diseases account for between 11 percent and 46 percent of pediatric healthcare costs in the US.
The companies will work together to identify the genetic mutations that cause the rare genetic lysosomal storage disorder alpha mannosidosis.
According to the Wall Street Journal, the Food and Drug Administration may soon issue an Emergency Use Authorization for convalescent plasma to treat COVID-19 patients.
Minnesota police have used genetic genealogy to make an arrest in a 1986 cold case, reports NBC News.
Researchers have used CRISPR-Cas9 to efficiently target a cephalopod pigmentation gene, as they report in Current Biology.
In Science this week: chromatin accessibility of microglia during fetal development, and more.