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genetic disorders

Hong Kong-based Rainbow Genomics will provide exome sequencing while UCLA will interpret the data and deliver a clinical report.

The team showed that sequencing can diagnose ill babies faster, leading to better outcomes and saving money by reducing unnecessary treatments and procedures.

Natera and Qiagen have signed a 10-year agreement to develop cell-free DNA assays for use on Qiagen's GeneReader next-generation sequencing system.

Three national organizations focused on prenatal, perinatal, and maternal-fetal care issued a consensus position statement related to genome-wide sequencing for fetal diagnosis.

The test is offered to couples who have had an affected pregnancy, with the goal of providing a diagnosis to enable early prenatal or preimplantation genetic testing. 

Denmark-based Arcedi would like to commercialize its technology through a major diagnostic company.

MCRI is planning to integrate its POSSUMweb database into FDNA's Face2Gene software, in order to enhance its library of genetic syndrome data and images.

Rainbow Genomics will offer exome-sequencing based screening and diagnostic tests developed by Baylor Genetics to patients in Asia.

Paralogs may compensate for a mutated gene in tissues other than the disease-affected ones, researchers from Ben-Gurion University of the Negev in Israel found.

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

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Researchers uncovered the HIV virus within a tissue sample collected in 1966, the Atlantic reports.

Nature News reports there are a handful of clinical trials underway to evaluate vaginal microbiome seeding of newborns born via caesarian section.

The Washington Post writes that humans may have contributed to the extinction of cave bears some 20,000 years ago.

In PLOS this week: gene variant may protect against trypanosomiasis, GLIS3 role in type 2 diabetes, and more.