genetic disorders

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.

UK regulators have given the clinic the green light to offer the service, the Guardian reports.

For New Skin

Technology Review writes that gene therapy might be able to help people with epidermolysis bullosa.


The London School of Economics' Daniele Fanelli argues at the Proceedings of the National Academy of Sciences that the reproducibility crisis in science isn't as dire as some say.

A team of researchers in Portugal has examined the genomic basis for racing pigeons' athleticism and navigational skills, finding it's likely polygenic.

Wired reports that diagnostic firms continue to seek, post-Theranos, the ability to diagnose diseases from small amounts of blood.

In Science this week: analysis of DNA from ancient North Africans, and more.